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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ciliopathy
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Accession:DOID:0060340 term browser browse the term
Definition:A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)
Synonyms:exact_synonym: ciliopathies
 primary_id: MESH:D000072661
 xref: EFO:0003900


show annotations for term's descendants           Sort by:
ciliopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:24886560 PMID:25741868 PMID:26092869 PMID:28492532 PMID:36180924 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:32461654 PMID:39168639 NCBI chr19:40,916,587...40,931,702
Ensembl chr19:40,916,532...40,931,701 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:9536098 PMID:17576681 PMID:18950740 PMID:19777577 PMID:21068128 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:169,817,182...169,852,695 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 PMID:39033378 NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:31,167,216...31,276,716 		JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:30,411,325...30,429,770
Ensembl chr 5:30,410,511...30,429,893 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:26275418 PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:39,618,651...39,697,962 		JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:189,700,838...189,867,402
Ensembl chr 1:189,700,775...189,867,402 		JBrowse link
G Kif7 kinesin family member 7 ISS MouseDO NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Nek4 NIMA-related kinase 4 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar NCBI chr16:6,144,900...6,185,376
Ensembl chr16:6,151,368...6,198,450 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Ciliopathies ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISS MouseDO NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS MouseDO NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:2692869 PMID:22883145 PMID:25118024 PMID:25741868 PMID:28492532 NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:249,363,428...249,374,841 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Ciliopathies | ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:16199547 PMID:23012439 PMID:23349226 PMID:25741868 PMID:25869670 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Ciliopathies | ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 PMID:28771248 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:88,755,264...88,819,598 		JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:193,595,535...193,641,142 		JBrowse link
G Wdr19 WD repeat domain 19 ISO
ISS 		DNA:missense mutation:cds:p.L750P (mouse) MouseDO
RGD		 PMID:22228095 RGD:11552606 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,282,149...35,580,775
Ensembl chr19:35,282,110...35,580,773 		JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO
ISS 		DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2440063 PMID:2871766 PMID:9063741 PMID:9409865 PMID:9536098 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,546,730...119,563,973
Ensembl chr 4:119,546,730...119,563,973 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,605,358...119,607,817
Ensembl chr 4:119,605,357...119,608,368 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:119,282,692...119,300,817 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,565,012...119,597,042
Ensembl chr 4:119,565,012...119,597,038 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:119,518,514...119,523,799 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:119,541,605...119,547,331 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,428,766...119,466,277
Ensembl chr 4:119,428,766...119,466,213 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,307,692...119,427,531
Ensembl chr 4:119,308,386...119,427,259 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,527,115...119,541,580
Ensembl chr 4:119,527,113...119,541,838 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:96,150,266...96,196,881 		JBrowse link
Bardet-Biedl syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:74,424,620...74,520,646
Ensembl chr 3:74,424,979...74,520,581 		JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,009,983...10,047,138
Ensembl chr19:10,010,031...10,047,124 		JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,978,450...10,007,145
Ensembl chr19:9,978,514...10,007,238 		JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,080,800...10,104,659
Ensembl chr19:10,085,388...10,103,220 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:68,595,194...68,623,179
Ensembl chr 8:68,595,248...68,623,178 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:2440063 PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:11,002,451...11,038,182
Ensembl chr19:11,002,101...11,038,364 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,305,612...212,309,643
Ensembl chr 1:212,305,604...212,309,629 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,089,141...67,136,764
Ensembl chr 8:67,083,802...67,152,245 		JBrowse link
G Arl2 ARF like GTPase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,863,422...212,875,425
Ensembl chr 1:212,863,423...212,875,373 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,342,895...10,352,529
Ensembl chr19:10,342,895...10,352,514 		JBrowse link
G Arl6 ARF like GTPase 6 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		ClinVar
RGD		 PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:22773737 More... RGD:1578724 NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Arl6ip6 ARF like GTPase 6 interacting protein 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 3:58,098,978...58,126,962
Ensembl chr 3:58,099,408...58,126,957 		JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:83,773,633...84,759,485 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,971,822...212,991,505
Ensembl chr 1:212,971,844...212,991,528 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442 		JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:212,101,523...212,103,552 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,897,076...212,905,740
Ensembl chr 1:212,875,148...212,905,831 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		ClinVar
RGD		 PMID:3196484 PMID:3646071 PMID:8316268 PMID:9343467 PMID:9536098 More... RGD:1579969 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD		 PMID:2748677 PMID:5982971 PMID:9536098 PMID:16582908 PMID:16823392 More... RGD:11352646 NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:17160889 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20142850 More... NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
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 More... RGD:70665 NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
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 More... NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		ClinVar
RGD		 PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 More... RGD:1579974 NCBI chr 3:74,818,104...74,839,658
Ensembl chr 3:74,818,473...74,857,023 		JBrowse link
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 More... RGD:1579975 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		ClinVar
RGD		 PMID:35886 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 More... RGD:9684996 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,163,892...212,166,146
Ensembl chr 1:212,163,892...212,166,141 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:211,775,095...211,784,410 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:212,705,222...212,729,445 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,072,371...212,081,179
Ensembl chr 1:212,072,412...212,081,178 		JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,108,553...10,124,652
Ensembl chr19:10,109,364...10,124,652 		JBrowse link
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:25741868 PMID:29127258 PMID:16327777 RGD:9685059 NCBI chr 5:147,246,627...147,251,629
Ensembl chr 5:147,246,628...147,251,629 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,331,519...67,430,194
Ensembl chr 8:67,331,519...67,413,485 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,192,979...212,193,994
Ensembl chr 1:212,189,468...212,196,911 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,208,120...10,209,895 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,263,589...10,270,359 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,803,052...211,805,616
Ensembl chr 1:211,801,934...211,805,776 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:67,829,048...67,864,505 		JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,037,603...213,057,764
Ensembl chr 1:213,037,836...213,057,765 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,631,317...212,640,231
Ensembl chr 1:212,629,881...212,640,234 		JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,807,863...212,821,313
Ensembl chr 1:212,804,014...212,821,309 		JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:82,182,868...82,192,134
Ensembl chr11:82,182,868...82,192,032 		JBrowse link
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		CTD
ClinVar		 PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,614,265...9,628,612
Ensembl chr19:9,614,721...9,628,612 		JBrowse link
G Cfap263 cilia and flagella associated protein 263 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,503,062...9,522,957
Ensembl chr19:9,503,066...9,522,957 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:212,226,121...212,231,353 		JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,185,955...10,199,120
Ensembl chr19:10,182,088...10,201,495 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,048,121...67,063,192
Ensembl chr 8:67,048,123...67,062,881 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,828,791...211,834,474
Ensembl chr 1:211,828,794...211,834,437 		JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,899,438...66,906,200
Ensembl chr 8:66,899,438...66,906,200 		JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,440,245...10,477,783
Ensembl chr19:10,434,647...10,477,783 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:66,925,651...66,930,274 		JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,562,340...9,602,136
Ensembl chr19:9,562,321...9,602,136 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:212,084,676...212,086,384 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,201,904...212,208,028
Ensembl chr 1:212,201,904...212,205,292 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149 		JBrowse link
G Dhrs9 dehydrogenase/reductase 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:74,553,357...74,579,535
Ensembl chr 3:74,555,606...74,581,376 		JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,152,511...10,163,182
Ensembl chr19:10,152,458...10,164,190 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:211,634,068...211,658,310 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,161,107...212,163,833
Ensembl chr 1:212,161,125...212,163,762 		JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,949,484...9,967,296
Ensembl chr19:9,949,486...9,967,192 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,002,032...67,047,563
Ensembl chr 8:67,002,014...67,047,559 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:100,294,585...100,581,764
Ensembl chr14:100,294,585...100,546,579 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:212,423,447...212,443,598 		JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,009,113...213,031,488
Ensembl chr 1:213,008,049...213,031,485 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:212,103,892...212,109,017 		JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:123,775,269...123,905,585
Ensembl chr 6:123,776,368...123,905,538 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,445,101...212,447,164
Ensembl chr 1:212,445,102...212,446,738 		JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,779,429...212,781,028
Ensembl chr 1:212,779,473...212,781,026
Ensembl chr 1:212,779,473...212,781,026 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:212,197,416...212,201,731 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:212,183,833...212,192,391 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,572,534...212,593,181
Ensembl chr 1:212,572,537...212,592,695 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,022,989...212,032,802
Ensembl chr 1:212,023,000...212,032,801 		JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,426,140...9,435,192
Ensembl chr19:9,399,759...9,434,679 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:11,040,788...11,198,437
Ensembl chr19:11,040,788...11,198,437 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,180,428...9,206,113
Ensembl chr19:9,180,431...9,206,111 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,954,579...212,956,536
Ensembl chr 1:212,955,387...212,956,535 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495 		JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,604,360...10,624,168
Ensembl chr19:10,604,362...10,624,081 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:94,190,109...94,204,087 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:24140113 PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29588463 PMID:29704304 PMID:30761183 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		JBrowse link
G Ift57 intraflagellar transport 57 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:64,528,349...64,593,545
Ensembl chr11:64,528,349...64,593,545 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33531668 PMID:34539760 NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,799,989...67,810,685
Ensembl chr 8:67,799,304...67,814,536 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,467,013...67,469,989
Ensembl chr 8:67,444,536...67,487,493 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,504,042...67,512,125
Ensembl chr 8:67,504,037...67,513,708 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,927,249...9,946,750
Ensembl chr19:9,927,249...9,946,738 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,419,555...212,422,173
Ensembl chr 1:212,419,555...212,422,566 		JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,831,159...9,926,405
Ensembl chr19:9,831,159...9,926,405 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:211,843,929...211,854,160 		JBrowse link
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:74,842,118...74,855,244 JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,906,684...66,925,512
Ensembl chr 8:66,906,624...66,919,584 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,917,038...212,953,377
Ensembl chr 1:212,917,286...212,953,366 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,404,685...212,417,986
Ensembl chr 1:212,403,680...212,417,983 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,074,360...213,090,042
Ensembl chr 1:213,074,377...213,096,987 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:99,831,934...99,847,227
Ensembl chr14:99,831,615...99,847,232 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,680,133...10,680,214 JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:212,994,209...212,994,318 		JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,994,024...212,994,108
Ensembl chr 1:212,994,024...212,994,108 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome 		ClinVar
RGD		 PMID:2896767 PMID:3196484 PMID:9467007 PMID:9536098 PMID:10802661 More... RGD:1601414, RGD:1581208 NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:18327255 PMID:25741868 PMID:28289063 PMID:28492532 PMID:28497568 More... RGD:11070512 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,669,506...9,691,000
Ensembl chr19:9,669,506...9,691,000 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:66,844,116...66,852,016 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:211,693,804...211,697,177 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,775,357...212,779,364
Ensembl chr 1:212,775,357...212,779,888 		JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr17:79,695,812...79,696,200
Ensembl chr17:79,695,809...79,696,200 		JBrowse link
G Mt1a metallothionein 1A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200
Ensembl chr  X:79,695,809...79,696,200
Ensembl chr19:79,695,809...79,696,200 		JBrowse link
G Mt2 metallothionein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,837,927...10,838,709 		JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,854,677...10,856,080 		JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,869,735...10,871,831
Ensembl chr19:10,869,735...10,871,831 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,219,793...212,225,214
Ensembl chr 1:212,219,795...212,225,068 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,829,917...212,843,474
Ensembl chr 1:212,829,916...212,843,474 		JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,357,470...9,393,465
Ensembl chr19:9,357,470...9,392,972 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152 		JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,483,601...10,587,223
Ensembl chr19:10,483,755...10,555,786 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:211,711,338...211,716,102 		JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15776426 PMID:25741868 PMID:28492532 PMID:37431782 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,892,678...67,959,231
Ensembl chr 8:67,892,702...67,959,236 		JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:87,491,828...87,534,838 		JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,980,797...10,996,903
Ensembl chr19:10,980,158...10,999,754 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,690,154...10,793,937
Ensembl chr19:10,687,115...10,793,380 		JBrowse link
G Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,950,950...10,980,519
Ensembl chr19:10,950,060...10,980,519 		JBrowse link
G Osbpl8 oxysterol binding protein-like 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr 7:48,483,259...48,636,151
Ensembl chr 7:48,483,022...48,636,151 		JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:100,283,406...100,290,421
Ensembl chr14:100,283,406...100,290,421 		JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:212,284,605...212,296,106 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:212,379,851...212,403,166 		JBrowse link
G Peli1 pellino E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:99,455,970...99,510,474
Ensembl chr14:99,455,811...99,510,466 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:211,661,610...211,672,239 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 8:53,900,338...53,948,325
Ensembl chr 8:53,900,338...53,949,518 		JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,321,080...10,341,869
Ensembl chr19:10,321,080...10,342,226 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,656,500...212,680,667
Ensembl chr 1:212,656,501...212,680,542 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,164,148...10,170,930
Ensembl chr19:10,164,145...10,170,971 		JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,956,533...212,964,706
Ensembl chr 1:212,956,533...212,964,662 		JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,486,059...9,502,900
Ensembl chr19:9,486,017...9,503,697 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:94,157,971...94,233,218 		JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,407,382...10,436,029
Ensembl chr19:10,407,552...10,436,027 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:123,662,783...123,727,809
Ensembl chr 6:123,662,783...123,727,809 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,119,805...213,134,622
Ensembl chr 1:213,119,791...213,134,612 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,835,133...211,843,408
Ensembl chr 1:211,835,073...211,843,337
Ensembl chr  X:211,835,073...211,843,337 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,959,181...68,117,296
Ensembl chr 8:67,958,421...68,119,234 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:211,784,943...211,791,368 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:212,323,939...212,329,571 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:29,217,346...29,281,150 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,358,423...10,408,988
Ensembl chr19:10,359,795...10,407,076 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,843,463...212,845,842
Ensembl chr 1:212,843,463...212,845,883 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,119,824...212,128,517
Ensembl chr 1:212,104,557...212,128,486 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,861,504...66,888,151
Ensembl chr 8:66,861,537...66,888,150 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:212,475,068...212,501,129 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:20835237 PMID:21866095 PMID:22190896 PMID:23559409 More... NCBI chr13:91,286,787...91,518,255
Ensembl chr13:91,286,645...91,511,490 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,244,318...67,267,060
Ensembl chr 8:67,243,824...67,267,058 		JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,349,011...9,356,515
Ensembl chr19:9,353,520...9,356,515 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:213,090,256...213,112,688
Ensembl chr 1:213,099,260...213,113,590 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:212,367,867...212,377,497 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,636,596...10,675,050 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,595,536...212,603,786
Ensembl chr 1:212,595,982...212,603,786 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:211,757,000...211,764,560 		JBrowse link
G Slc38a7 solute carrier family 38, member 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,215,336...9,231,592
Ensembl chr19:9,215,383...9,231,589 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:144,672,898...144,849,468
Ensembl chr 3:144,673,857...144,849,465
Ensembl chr 8:144,673,857...144,849,465 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,846,308...212,855,450
Ensembl chr 1:212,846,312...212,855,450 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:212,228,992...212,248,071 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,713,904...9,728,309
Ensembl chr19:9,719,209...9,728,309 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,557,846...67,565,734
Ensembl chr 8:67,557,847...67,565,730 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720 		JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,766,736...212,775,426
Ensembl chr 1:212,768,907...212,776,457 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,657,409...67,669,558
Ensembl chr 8:67,657,410...67,669,558 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,607,772...212,612,683
Ensembl chr 1:212,607,138...212,610,802 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,785,217...212,789,572
Ensembl chr 1:212,785,217...212,789,557 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,816,773...211,821,558
Ensembl chr 1:211,816,773...211,822,317 		JBrowse link
G Tmem67 transmembrane protein 67 ISO DNA:missense mutation: :p.S320C (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16415887 PMID:18327255 PMID:20232449 PMID:23559409 PMID:25741868 More... RGD:11070512 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:143,843,612...143,857,347
Ensembl chr 5:143,836,912...143,857,345 		JBrowse link
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 More... RGD:1624129 NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:84,014,803...84,042,748 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:12567324 PMID:19402160 PMID:21209035 PMID:28492532 PMID:31196119 NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:121,409,436...121,475,823 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,129,921...212,144,784
Ensembl chr 1:212,129,923...212,144,209 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr10:73,053,414...73,083,640
Ensembl chr10:73,058,354...73,083,640 		JBrowse link
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 More... RGD:1624198 NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:67,217,151...67,236,224
Ensembl chr 8:67,216,527...67,236,224 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:99,657,637...99,698,573
Ensembl chr14:99,657,639...99,698,002 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:66,888,788...66,895,379 		JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,695,370...9,708,329
Ensembl chr19:9,694,267...9,708,329 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,789,721...212,799,708
Ensembl chr 1:212,789,721...212,799,708 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:99,580,120...99,657,178
Ensembl chr14:99,580,148...99,657,164 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:211,823,921...211,828,437
Ensembl chr 1:211,824,273...211,828,802 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:123,736,120...123,773,775
Ensembl chr 6:123,736,148...123,774,266 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:3196484 PMID:9343467 PMID:9536098 PMID:10564830 PMID:12118255 More... NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
G Zfp319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,708,881...9,712,860
Ensembl chr19:9,707,983...9,728,711 		JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,803,790...212,807,803
Ensembl chr 1:212,803,794...212,807,289 		JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,783,584...212,784,865
Ensembl chr 1:212,783,307...212,785,817 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:212,447,010...212,448,793
Ensembl chr 1:212,447,010...212,448,793 		JBrowse link
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15258860 PMID:15314642 PMID:19236846 PMID:19858128 PMID:20142850 More... NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:262,950,459...262,964,410
Ensembl chr 1:262,950,462...262,964,394 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO
ISS 		ClinVar Annotator: match by term: BBS1-related ciliopathy | ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
OMIM:209900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3196484 PMID:9343467 PMID:9536098 PMID:10564830 PMID:12118255 More... NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 More... NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
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 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12016587 PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 More... NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25525159 More... NCBI chr 3:74,818,104...74,839,658
Ensembl chr 3:74,818,473...74,857,023 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:20177705 PMID:23757202 PMID:25741868 PMID:28492532 More... NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of 		OMIM
CTD
ClinVar		 PMID:12677556 PMID:16327777 PMID:25741868 PMID:28492532 PMID:29127258 NCBI chr 5:147,246,627...147,251,629
Ensembl chr 5:147,246,628...147,251,629 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:23692385 NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:217,940,697...218,114,865
Ensembl chr 1:217,909,169...218,110,466 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:3196484 PMID:9343467 PMID:9536098 PMID:10564830 PMID:12118255 More... NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:12677556 PMID:20498079 PMID:25741868 PMID:27884173 More... NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 More... NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
Bardet-Biedl syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs10 Bardet-Biedl syndrome 10 ISO
ISS 		ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic
OMIM:615987
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2748677 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 More... NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Osbpl8 oxysterol binding protein-like 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr 7:48,483,259...48,636,151
Ensembl chr 7:48,483,022...48,636,151 		JBrowse link
Bardet-Biedl syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:83,773,633...84,759,485 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:84,014,803...84,042,748 		JBrowse link
Bardet-Biedl syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: BBS12-related ciliopathy | ClinVar Annotator: match by term: BBS12-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 12
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 More... NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
Bardet-Biedl syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 13
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
Bardet-Biedl syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3253185 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
Bardet-Biedl syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
Bardet-Biedl syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:25741868 More... NCBI chr 3:81,320,822...81,704,397
Ensembl chr 3:81,320,822...81,680,612 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS 		ClinVar Annotator: match by term: Bardet-Biedl syndrome 16
OMIM:615993 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:91,286,787...91,518,255
Ensembl chr13:91,286,645...91,511,490 		JBrowse link
Bardet-Biedl syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 ClinVar NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:132,273,544...132,287,883 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
ISS 		ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition
OMIM:615994 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17163542 PMID:17576681 PMID:22510444 PMID:23692385 More... NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:217,940,697...218,114,865
Ensembl chr 1:217,909,169...218,110,466 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
Bardet-Biedl syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbip1 BBSome interacting protein 1 ISO
ISS 		ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
OMIM:615995 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:28492532 More... NCBI chr 1:262,950,459...262,964,410
Ensembl chr 1:262,950,462...262,964,394 		JBrowse link
Bardet-Biedl syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition OMIM
ClinVar		 PMID:24488770 PMID:25446516 PMID:25741868 PMID:27894351 PMID:28492532 More... NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		JBrowse link
Bardet-Biedl syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO
ISS 		ClinVar Annotator: match by term: BBS2-related ciliopathy | ClinVar Annotator: match by term: BBS2-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
OMIM:615981
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
Bardet-Biedl Syndrome 2/4, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic ClinVar PMID:11567139 PMID:20498079 PMID:25741868 PMID:26355662 PMID:27894351 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
Bardet-Biedl Syndrome 2/6, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 2/6, DIGENIC ClinVar PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 2/6, DIGENIC ClinVar PMID:11567139 PMID:22446187 NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
Bardet-Biedl syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 OMIM
ClinVar		 PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:9536098 PMID:11030072 PMID:17576681 PMID:24140113 PMID:25168386 More... NCBI chr 6:30,840,906...30,842,500
Ensembl chr 6:30,840,906...30,842,475 		JBrowse link
Bardet-Biedl syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 21 OMIM
ClinVar		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:26355662 PMID:26854863 More... NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
Bardet-Biedl syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 ClinVar PMID:24290075 PMID:25741868 PMID:28492532 PMID:31587445 PMID:32451492 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27486776 PMID:28492532 More... NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
Bardet-Biedl syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ARF like GTPase 6 ISO
ISS 		ClinVar Annotator: match by term: Bardet-Biedl syndrome 3
OMIM:600151
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15258860 PMID:15314642 PMID:16199547 PMID:17160889 More... NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Epha6 Eph receptor A6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 ClinVar PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:27486776 More... NCBI chr11:53,226,784...54,178,120
Ensembl chr11:53,226,954...54,166,987 		JBrowse link
Bardet-Biedl syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs4 Bardet-Biedl syndrome 4 ISO
ISS 		ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4
OMIM:615982
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
Bardet-Biedl syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs5 Bardet-Biedl syndrome 5 ISO
ISS 		ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
OMIM:615983 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 More... NCBI chr 3:74,818,104...74,839,658
Ensembl chr 3:74,818,473...74,857,023 		JBrowse link
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks MKKS centrosomal shuttling protein ISO
ISS 		ClinVar Annotator: match by term: Bardet-Biedl syndrome 6
OMIM:605231
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3196484 PMID:9467007 PMID:9536098 PMID:10802661 PMID:10973238 More... NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:20876674 PMID:21052717 More... NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
Bardet-Biedl syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: BBS7-related ciliopathy | ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 More... NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
Bardet-Biedl syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO
ISS 		ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition
OMIM:615985
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
Bardet-Biedl syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: BBS9-related ciliopathy | ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 ClinVar PMID:10712197 PMID:25741868 PMID:28492532 PMID:31766501 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:77,790,563...77,841,239 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:68,057,580...68,119,338 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 9:30,040,466...30,533,834
Ensembl chr 9:30,046,038...30,533,935 		JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		JBrowse link
Ciliary Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Ciliary dyskinesia ClinVar PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 More... NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24307375 More... NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,694,398...8,948,849 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME | ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More... NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215 PMID:19668216 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human)
ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME 		ClinVar
RGD		 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 More... RGD:1599600 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407 PMID:17558409 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
Joubert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:28,642,758...28,662,681 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:28,774,457...28,800,096 		JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:74,118,232...74,151,366
Ensembl chr10:74,119,124...74,138,190 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,427,789...46,448,449
Ensembl chr10:46,407,993...46,448,648 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,843,656...45,869,658 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,484,590...28,496,338
Ensembl chr 3:28,484,614...28,496,337 		JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,555,212...70,597,193 		JBrowse link
G Arl13b ARF like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18674751 PMID:23150559 PMID:23153492 PMID:24033266 PMID:25741868 More... NCBI chr11:150,100...217,103
Ensembl chr11:13,597,538...13,663,546 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,133,190...28,140,378
Ensembl chr 3:28,133,191...28,140,687 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:37,472,813...37,640,860 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,705,157...45,721,282
Ensembl chr10:45,697,027...45,721,383 		JBrowse link
G B9d1 B9 domain containing 1 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:21270786 PMID:21493627 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:70,711,084...71,170,492
Ensembl chr10:70,711,525...71,170,803 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:71,466,179...71,482,671
Ensembl chr14:71,466,180...71,482,647 		JBrowse link
G C10h17orf67 similar to human chromosome 17 open reading frame 67 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,895,343...73,916,133
Ensembl chr10:74,392,541...74,413,323 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:164,127,281...164,225,086 		JBrowse link
G C7h12orf50 similar to human chromosome 12 open reading frame 50 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:37,292,758...37,329,889 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,718,648...28,720,232 JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:69,827,945...69,836,501
Ensembl chr10:70,325,358...70,333,916 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:29,144,318...29,204,184 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:33131181 NCBI chr 7:113,097,220...113,103,831 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:28,826,921...28,835,326 		JBrowse link
G Cd38 CD38 molecule ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:71,384,532...71,424,794
Ensembl chr14:71,384,532...71,424,505 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar PMID:25741868 PMID:26477546 PMID:28492532 PMID:31625690 PMID:35359234 More... NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:169,817,182...169,852,695 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:3253185 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:60,239,539...60,254,419 		JBrowse link
G Chct1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,537,127...70,548,963 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:28,431,410...28,436,125 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,014,984...72,073,308
Ensembl chr10:72,014,986...72,070,691 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 PMID:28679688 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:12,094,346...12,131,693 		JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,789,077...73,810,378
Ensembl chr10:74,286,840...74,307,595 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,117,664...45,151,868
Ensembl chr10:45,117,657...45,152,074 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:10488899 PMID:18414213 PMID:20301500 PMID:21679365 PMID:22236771 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 1:216,592,745...216,616,860
Ensembl chr 1:216,592,463...216,616,855 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24360807 PMID:24360808 PMID:25741868 PMID:28492532 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,892,637...72,986,546
Ensembl chr10:73,389,841...73,483,749 		JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr 1:216,641,108...216,662,495
Ensembl chr 1:216,651,128...216,662,492 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:28,451,219...28,456,118 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:74,348,931...74,374,509
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,081,867...72,118,792
Ensembl chr10:72,081,867...72,118,958 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:29,853,973...29,862,255 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:29,568,041...29,569,996 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,168,466...28,177,173
Ensembl chr 3:28,168,547...28,177,173 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:28,563,240...28,567,492 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,648,410...45,698,900 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,755,059...45,769,523 		JBrowse link
G Dynll2 dynein light chain LC8-type 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,767,035...72,785,824
Ensembl chr10:73,264,261...73,272,285 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,764,906...28,779,499 JBrowse link
G Egfl6 EGF-like-domain, multiple 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,884,087...27,942,044
Ensembl chr  X:31,515,767...31,574,632 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:29,802,690...29,814,951 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,283,392...28,295,686
Ensembl chr 3:28,285,777...28,293,686 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,697,238...46,759,092 		JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,164,096...73,175,180
Ensembl chr10:73,164,096...73,175,180 		JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr19:69,752,387...69,754,876
Ensembl chr19:69,727,231...69,804,820 		JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:30905400 NCBI chr15:3,978,377...4,016,323
Ensembl chr15:3,978,377...4,016,317 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,862,983...46,887,499
Ensembl chr10:46,862,369...46,886,277 		JBrowse link
G Fbxl5 F-box and leucine-rich repeat protein 5 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:67,305,109...67,347,383
Ensembl chr14:71,480,270...71,560,652 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:48,012,555...48,051,136
Ensembl chr10:47,958,677...48,051,136 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235 		JBrowse link
G Fgfbp1 fibroblast growth factor binding protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:71,316,171...71,319,965
Ensembl chr14:71,317,065...71,320,309 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,088,164...45,107,581
Ensembl chr10:45,088,167...45,107,309 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,893,572...45,907,491 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388 		JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,318,716...72,381,143
Ensembl chr10:72,337,778...72,381,120 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,721,055...45,747,132
Ensembl chr10:45,720,759...45,747,323 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:29,026,025...29,036,699 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,832,390...46,851,523 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr12:37,669,995...37,687,505
Ensembl chr12:37,669,997...37,686,466 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:68,635,048...68,665,445
Ensembl chr10:69,132,181...69,162,945 		JBrowse link
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 chr10:72,914,382...72,957,648 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
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:16025100 PMID:16199547 More... RGD:12911208 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:28492532 NCBI chr19:15,211,882...15,215,317
Ensembl chr19:31,384,833...31,388,238 		JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:28492532 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:28492532 NCBI chr19:14,330,440...14,336,403
Ensembl chr19:30,503,419...30,509,382 		JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 1:189,700,838...189,867,402
Ensembl chr 1:189,700,775...189,867,402 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Kiaa0586 KIAA0586 homolog 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:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 More... NCBI chr13:50,478,646...50,542,256
Ensembl chr13:50,478,721...50,542,248 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:36,782,638...36,863,793 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,930,943...29,935,418 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:28,882,133...28,887,694 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:28,866,061...28,869,045 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:29,041,133...29,044,895 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,878,936...45,893,609
Ensembl chr10:45,879,012...45,893,603 		JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,104,170...73,124,683
Ensembl chr10:73,104,188...73,123,456 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:28,500,517...28,501,843 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:114,680,787...114,702,961
Ensembl chr 2:114,680,094...114,702,961 		JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:25741868 NCBI chr 2:88,746,904...88,781,532
Ensembl chr 2:88,746,443...88,781,542 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:28,780,523...28,789,139 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,669,721...46,675,806 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,250,229...45,264,988
Ensembl chr10:45,250,223...45,264,987 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,655,722...46,669,740 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,908,706...45,913,658 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Mir21 microRNA 21 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:28492532 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:44,953,472...45,073,388
Ensembl chr10:44,953,500...45,073,388 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:28,162,197...28,181,250 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:32,198,641...32,204,892 		JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,999,033...73,006,791
Ensembl chr10:73,495,702...73,503,543 		JBrowse link
G Msi2 musashi RNA-binding protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,640,960...74,007,497
Ensembl chr10:73,646,139...74,007,552 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,889,827...72,913,598 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:28,460,797...28,469,018 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,409,045...28,425,564
Ensembl chr 3:28,409,050...28,425,564 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,293,643...28,309,828
Ensembl chr 3:28,293,658...28,304,022 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,618,601...28,624,591 JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar PMID:16199547 PMID:23559409 PMID:25741868 PMID:28002029 PMID:28492532 More... NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:28,390,733...28,393,453 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:28,260,004...28,268,789 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,151,902...45,178,687
Ensembl chr10:45,152,505...45,181,308 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:28,902,876...28,907,389 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Olr1523 olfactory receptor 1523 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,708,272...72,709,213 JBrowse link
G Or4d2b olfactory receptor family 4 subfamily D member 2B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,693,014...72,693,949
Ensembl chr10:73,189,953...73,210,596 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,929,252...28,932,592 JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:20232449 PMID:23559409 PMID:28492532 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:30,242,704...30,253,960 		JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065 PMID:27894351 NCBI chr19:55,974,611...56,019,045
Ensembl chr19:55,974,550...56,019,044 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,275,434...45,349,651
Ensembl chr10:45,275,412...45,420,037 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,791,062...28,792,905 JBrowse link
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 chr15:82,258,468...82,427,548 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,078,081...45,080,732
Ensembl chr10:45,077,080...45,087,160 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:29,604,232...29,614,935 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,180,670...28,259,673
Ensembl chr 3:28,180,751...28,259,672 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:70,670,026...70,706,030
Ensembl chr10:70,670,020...70,706,256 		JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,548,906...72,684,702
Ensembl chr10:72,552,469...72,684,546 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,910,285...46,945,331 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,396,127...72,440,643
Ensembl chr10:72,398,667...72,418,275 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,985,245...72,045,352 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:29,433,091...29,463,036 		JBrowse link
G Rab9a RAB9A, member RAS oncogene family ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:31,610,089...31,632,128
Ensembl chr  X:31,583,944...31,645,743 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,702,299...72,729,143 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:45,447,427...45,507,747 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,265,975...45,275,279
Ensembl chr10:45,265,979...45,267,710 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr 6:135,890,851...135,967,367
Ensembl chr 6:135,890,851...135,967,367 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,620,602...46,627,528 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:28,395,769...28,458,093 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:28,448,248...28,450,981 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,961,641...73,034,551 		JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,807,456...71,821,141 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,815,614...71,865,238 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:28,585,416...28,591,389 		JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,703,275...73,732,892
Ensembl chr10:74,200,491...74,230,241 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 1:216,564,002...216,592,877
Ensembl chr 1:216,567,861...216,593,540 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,863,969...72,888,018
Ensembl chr10:72,864,014...72,888,019 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,960,434...45,997,326 		JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,418,707...72,436,721
Ensembl chr10:72,418,617...72,436,718 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,533,580...46,590,128
Ensembl chr10:46,533,583...46,587,096 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:46,851,527...46,898,460
Ensembl chr10:46,851,527...46,899,277 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,957,146...45,968,388
Ensembl chr10:45,957,104...45,968,389 		JBrowse link
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,886,742...71,895,776
Ensembl chr10:72,384,025...72,393,045 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:29,061,267...29,065,588 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,507,152...45,529,164 		JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,335,519...73,342,549
Ensembl chr10:73,336,422...73,342,548 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:28,483,107...28,484,608 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:28,426,292...28,428,692 		JBrowse link
G Supt4h1 SPT4 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,036,560...73,042,821
Ensembl chr10:73,036,343...73,043,088 		JBrowse link
G Sycp3l1 synaptonemal complex protein 3 like 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr 1:186,108,544...186,111,598 JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr14:71,085,966...71,132,228
Ensembl chr14:71,085,316...71,132,232 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:71,177,082...71,186,275 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:71,197,727...71,258,218 		JBrowse link
G Tceanc transcription elongation factor A N-terminal and central domain containing ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,952,539...27,961,038
Ensembl chr  X:31,576,365...31,592,830 		JBrowse link
G Tctn1 tectonic family member 1 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 More... NCBI chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
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:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:249,363,428...249,374,841 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,729,017...72,859,697
Ensembl chr10:72,728,985...72,853,064 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:30,644,355...30,672,151 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:30,708,714...30,733,104
Ensembl chr  X:30,708,033...30,737,079 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:27081510 More... NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr14:96,483,648...96,524,238
Ensembl chr14:100,685,093...100,725,470 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,469,062...28,469,890
Ensembl chr 3:28,465,345...28,472,140 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:28,498,751...28,499,801 		JBrowse link
G Tmem216 transmembrane protein 216 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:19442771 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		JBrowse link
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:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders 		ClinVar
RGD		 PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 More... RGD:11561921 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462 		JBrowse link
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 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:30,761,611...30,763,612
Ensembl chr  X:30,761,612...30,763,613 		JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:37,151,456...37,196,540 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:46,301,316...46,324,408 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:32453716 PMID:32747439 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:88,755,264...88,819,598 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,535,548...45,657,528
Ensembl chr10:45,535,548...45,657,521 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,915,625...45,956,856 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,402,454...28,406,141
Ensembl chr 3:28,399,513...28,406,473 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 More... NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:31,635,706...31,641,443 		JBrowse link
G Trim25 tripartite motif-containing 25 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:28492532 NCBI chr10:74,310,024...74,328,473
Ensembl chr10:74,310,022...74,331,716 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,440,672...72,572,831
Ensembl chr10:72,440,644...72,572,828 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,053,414...73,083,640
Ensembl chr10:73,058,354...73,083,640 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,435,999...28,438,455
Ensembl chr 3:28,435,148...28,439,719 		JBrowse link
G Tubd1 tubulin, delta 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,864,904...71,888,730 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:48,052,995...48,067,319 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:29,204,570...29,246,161 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:69,855,895...70,029,075
Ensembl chr10:70,353,310...70,538,324 		JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:73,341,666...73,373,320
Ensembl chr10:73,356,985...73,373,320 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:71,903,223...72,002,337
Ensembl chr10:71,903,227...72,002,319 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
G Ypel2 yippee-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr10:72,243,591...72,301,124
Ensembl chr10:72,243,591...72,301,124 		JBrowse link
G Zic1 Zic family member 1 ISS MouseDO NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:28,156,314...28,167,902 		JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:3196484 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Arl13b ARF like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:13,597,538...13,663,546 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24997988 PMID:26092869 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:164,127,281...164,225,086 		JBrowse link
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 Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:3253185 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:28492532 NCBI chr10:68,635,048...68,665,445
Ensembl chr10:69,132,181...69,162,945 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:17576681 PMID:18414213 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:189,700,838...189,867,402
Ensembl chr 1:189,700,775...189,867,402 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr12:14,899,188...14,927,949
Ensembl chr12:20,012,985...20,041,795 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
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 Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:28492532 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:30,761,611...30,763,612
Ensembl chr  X:30,761,612...30,763,613 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 PMID:26123494 PMID:34645488 PMID:37644014 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
CTD Direct Evidence: marker/mechanism
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human) 		OMIM
ClinVar
CTD
RGD		 PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164 PMID:22246503 PMID:25741868 PMID:26174511 PMID:28492532 More... NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
Joubert Syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 13 | ClinVar Annotator: match by term: TCTN1-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 More... NCBI chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
Joubert syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:22152675 PMID:28492532 NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:67,929,082...68,024,960 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:68,063,867...68,106,128 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:67,908,309...67,927,222 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition OMIM
ClinVar		 PMID:9536098 PMID:11586298 PMID:14760273 PMID:16199547 PMID:17576681 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
Joubert syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: CEP41-related condition | ClinVar Annotator: match by term: Joubert syndrome 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21438139 More... NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:60,239,539...60,254,419 		JBrowse link
Joubert Syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr 1:207,219,113...207,226,159 JBrowse link
Joubert Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO
ISS 		ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17
OMIM:614615
DNA:missense mutation: :p.S235P (mouse) 		OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... RGD:11537349 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:73,935,795...73,937,808 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324 		JBrowse link
Joubert Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 18 OMIM
ClinVar		 PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:249,363,428...249,374,841 		JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:misense mutation:exon:c.35G>T(p.R12L)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11561919 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
Joubert syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adat1 adenosine deaminase, tRNA-specific 1 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr19:56,825,153...56,866,136
Ensembl chr19:56,826,849...56,866,117 		JBrowse link
G Chst6 carbohydrate sulfotransferase 6 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr19:39,860,729...39,881,019
Ensembl chr19:56,769,967...56,790,306 		JBrowse link
G Gabarapl2 GABA type A receptor associated protein like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr19:39,910,572...39,921,408
Ensembl chr19:56,819,791...56,830,660 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
G Tmem170a transmembrane protein 170A ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr19:39,833,947...39,846,807 JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert syndrome 20 | ClinVar Annotator: match by term: TMEM231-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
Joubert syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24360803 PMID:24360807 More... NCBI chr 5:13,764,507...13,859,237
Ensembl chr 5:13,764,975...13,859,237 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:13,975,198...13,993,391
Ensembl chr 5:13,975,052...13,993,387 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807 PMID:24360808 PMID:28492532 NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:13,309,660...13,671,429 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:14,071,609...14,120,435
Ensembl chr 5:14,080,968...14,120,351 		JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,227,109...9,274,461
Ensembl chr 5:14,010,036...14,057,345 		JBrowse link
G Snord87 small nucleolar RNA, C/D box 87 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,297,489...9,297,573
Ensembl chr 5:14,080,356...14,080,440 		JBrowse link
G Tcf24 transcription factor 24 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,274,659...9,282,876
Ensembl chr 5:14,058,039...14,063,345 		JBrowse link
Joubert syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:95,198,334...95,205,742 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780 		JBrowse link
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 9:95,213,374...95,219,451 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:95,869,865...95,905,357 		JBrowse link
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 9:94,404,135...94,408,147 		JBrowse link
G C9h2orf72 similar to human chromosome 2 open reading frame 72 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:94,139,849...94,147,918 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:93,911,054...93,972,542 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		JBrowse link
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 9:94,686,314...94,711,903 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:95,964,148...96,055,160 		JBrowse link
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 9:94,804,382...95,184,522 		JBrowse link
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 9:96,243,071...96,244,408 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:95,264,618...95,274,575 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:95,386,169...95,432,798 		JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:95,333,989...95,362,362 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,449,143...95,574,927
Ensembl chr 9:95,449,167...95,574,927 		JBrowse link
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 9:94,036,162...94,088,707 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,301,183...96,315,587
Ensembl chr 9:96,302,530...96,315,657 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:94,190,109...94,204,087 		JBrowse link
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 9:93,993,895...94,007,704 		JBrowse link
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 9:95,510,877...95,520,817 		JBrowse link
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 9:96,262,271...96,301,635 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:94,446,682...94,456,083 		JBrowse link
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 9:95,696,507...95,715,208 		JBrowse link
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 9:95,594,823...95,692,251 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,480,002...94,486,147
Ensembl chr 9:94,481,248...94,485,428 		JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Joubert syndrome 22 | ClinVar Annotator: match by term: PDE6D-related condition OMIM
ClinVar		 PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 More... NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:94,640,932...94,685,918 		JBrowse link
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 9:95,302,772...95,307,877 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:94,157,971...94,233,218 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:94,624,196...94,628,276 		JBrowse link
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 9:95,917,197...95,956,507 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:95,574,943...95,593,394
Ensembl chr 9:95,591,796...95,593,394 		JBrowse link
G Snord20 small nucleolar RNA, C/D box 20 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:94,449,039...94,449,118 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:94,452,486...94,452,557 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:93,758,975...93,825,068
Ensembl chr 9:93,759,075...93,825,068 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:93,648,575...93,670,659 		JBrowse link
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 9:93,667,989...93,722,593 		JBrowse link
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 9:94,107,807...94,119,172 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:96,454,957...96,474,452 		JBrowse link
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 9:94,523,640...94,526,154 		JBrowse link
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 9:96,315,567...96,437,959
Ensembl chr 9:96,351,681...96,436,617 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
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 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:96,055,741...96,126,766
Ensembl chr 9:96,055,741...96,126,721 		JBrowse link
Joubert syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 6:95,258,429...95,335,987
Ensembl chr 6:95,258,429...95,329,840 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Joubert syndrome 23 OMIM
ClinVar		 PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
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 6:95,219,629...95,241,032 		JBrowse link
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 6:95,346,065...95,358,895
Ensembl chr 6:95,346,065...95,358,895 		JBrowse link
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 6:95,335,840...95,347,299 		JBrowse link
Joubert syndrome 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:37,472,813...37,640,860 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
Joubert syndrome 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:171,783,382...171,798,191 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:170,518,165...170,521,164 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:171,680,597...171,683,431 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:170,126,575...170,148,624 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:171,833,854...171,838,800 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:171,983,936...172,001,373 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:169,867,709...169,881,888 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:171,699,689...171,711,231 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Joubert syndrome 25 OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:169,817,182...169,852,695 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:171,262,113...171,328,349 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:171,580,033...171,595,399 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:171,240,789...171,253,094 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:170,803,940...170,806,021 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:172,094,940...172,101,195 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:169,852,897...169,862,598 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:170,020,778...170,121,554 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:170,713,627...170,744,058 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:171,520,494...171,524,695 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:170,929,321...170,987,218 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:171,691,198...171,695,728 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:171,428,000...171,458,579 		JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,102,369...172,114,168
Ensembl chr 5:172,101,223...172,114,162 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:170,807,745...170,824,477 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:172,087,055...172,095,374 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:171,773,331...171,783,339 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:172,005,566...172,008,458 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:171,868,563...171,888,884 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,579,327...164,584,650
Ensembl chr 5:169,864,251...169,866,942 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:171,750,937...171,754,993 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:171,626,275...171,633,044 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:171,673,319...171,676,143 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:171,330,966...171,332,704 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:171,901,717...171,904,576 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:170,693,402...170,710,368 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:171,912,376...171,926,337 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:171,815,623...171,830,034 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:169,988,553...170,004,069 		JBrowse link
Joubert Syndrome 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnip katanin interacting protein ISO
ISS 		ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition
OMIM:616784 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26714646 More... NCBI chr 1:189,700,838...189,867,402
Ensembl chr 1:189,700,775...189,867,402 		JBrowse link
Joubert Syndrome 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome 27 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21270786 PMID:21493627 PMID:24886560 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
Joubert Syndrome 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome 28 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO
ISS 		DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3
OMIM:608629
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		JBrowse link
Joubert syndrome 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: ARMC9-related condition | ClinVar Annotator: match by term: Joubert syndrome 30 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
Joubert syndrome 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep120 centrosomal protein 120 ISO ClinVar Annotator: match by term: CEP120-related condition | ClinVar Annotator: match by term: Joubert syndrome 31 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr18:49,326,266...49,388,380
Ensembl chr18:49,326,266...49,388,243 		JBrowse link
Joubert syndrome 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 32 | ClinVar Annotator: match by term: Joubert syndrome 32 OMIM
ClinVar		 PMID:16199547 PMID:19833601 PMID:22508808 PMID:24728327 PMID:25403219 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
Joubert syndrome 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: PIBF1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr15:75,820,040...75,850,450
Ensembl chr15:82,231,283...82,258,333 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 33 | ClinVar Annotator: match by term: PIBF1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 More... NCBI chr15:75,850,389...76,019,711
Ensembl chr15:82,258,468...82,427,548 		JBrowse link
JOUBERT SYNDROME 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: ARL3-related condition | ClinVar Annotator: match by term: Joubert syndrome 35 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30269812 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
Joubert Syndrome 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc9 DnaJ heat shock protein family (Hsp40) member C9 ISO ClinVar Annotator: match by term: Joubert syndrome 36 ClinVar PMID:25741868 NCBI chr15:3,970,843...4,003,009
Ensembl chr15:3,970,114...3,977,304 		JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Joubert syndrome 36 OMIM
ClinVar		 PMID:25741868 PMID:30905400 NCBI chr15:3,978,377...4,016,323
Ensembl chr15:3,978,377...4,016,317 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Joubert syndrome 36 ClinVar PMID:25741868 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
Joubert Syndrome 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome 37 OMIM
ClinVar		 PMID:25741868 PMID:32453716 PMID:32747439 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:88,755,264...88,819,598 		JBrowse link
Joubert Syndrome 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Joubert syndrome 38 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 More... NCBI chr10:56,783,869...56,832,668
Ensembl chr10:57,281,439...57,331,259 		JBrowse link
Joubert Syndrome 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Joubert syndrome 39 OMIM
ClinVar		 PMID:25741868 PMID:33791682 PMID:35137054 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Joubert syndrome with renal defect ClinVar PMID:25741868 NCBI chr 3:135,381,180...135,404,136
Ensembl chr 3:135,377,410...135,404,066 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 4 | ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect
CTD Direct Evidence: marker/mechanism
associated with Kidney Diseases, Cystic;DNA:mutation 		OMIM
ClinVar
CTD
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
Joubert Syndrome 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Joubert syndrome 40 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31690835 PMID:33531668 PMID:34539760 NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO
ISS 		ClinVar Annotator: match by term: Joubert syndrome 5
OMIM:610188
CTD Direct Evidence: marker/mechanism
DNA:SNPs:multiple (human)
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
Joubert syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
ISS 		ClinVar Annotator: match by term: Joubert syndrome 6
OMIM:610688
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutations: :multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... RGD:11072184 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr14:5,541,821...5,585,140 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO
ISS 		ClinVar Annotator: match by term: Joubert syndrome 7
OMIM:611560
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... RGD:11537350 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
Joubert syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ARF like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 8
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 More... RGD:11553937 NCBI chr11:150,100...217,103
Ensembl chr11:13,597,538...13,663,546 		JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:50,960,192...51,045,220 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:13,676,310...13,757,858
Ensembl chr11:13,676,769...13,757,852 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:13,593,134...13,629,410 		JBrowse link
Joubert syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:147,137,797...147,153,967 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:IVS19+1G>C (human)
DNA:mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:60,239,539...60,254,419 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:147,154,374...147,170,750 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: VARADI SYNDROME | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:84,093,529...84,144,835
Ensembl chr14:84,093,559...84,144,892 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS MouseDO NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:118,593,881...118,631,647 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome 		CTD
ClinVar		 PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:164,358,306...164,388,485 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:91,881,067...91,921,349 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 PMID:28492532 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:64,532,860...64,561,435 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr10:87,846,327...87,849,959
Ensembl chr10:88,346,453...88,349,853 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:93,397,164...93,406,323 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22387996 NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:82,578,755...82,592,205 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 PMID:28492532 PMID:32719396 NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS 		DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD		 PMID:12142464 RGD:734893 NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS 		DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome 		ClinVar
MouseDO
RGD		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO
ISS 		DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 More... RGD:1601083 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS MouseDO NCBI chr10:99,759,966...99,793,379
Ensembl chr10:100,258,994...100,292,426 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:109,478,858...109,513,148 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome 		CTD
MouseDO
ClinVar		 PMID:23354437 PMID:25741868 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:31,744,850...31,779,256 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,370
Ensembl chr10:102,065,170...102,069,241 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO 		ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:55,216,877...55,409,872
Ensembl chr17:59,910,757...60,103,547 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISS
ISO 		ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:28,796,701...28,810,511 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:69,241,233...69,244,579
Ensembl chr 7:69,232,179...69,244,578 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
Meckel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:37,472,813...37,640,860 		JBrowse link
G B9d1 B9 domain containing 1 ISS
ISO 		ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS
ISO 		ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:16199547 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19777577 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:257,629,188...257,682,373
Ensembl chr 1:267,615,349...267,662,269 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 8:20,437,967...20,475,968
Ensembl chr 8:20,437,338...20,476,115 		JBrowse link
G Cep55 centrosomal protein 55 ISS MouseDO NCBI chr 1:245,245,272...245,260,835
Ensembl chr 1:245,245,306...245,260,890 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:62,470,367...62,478,198 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:23169490 PMID:25558065 PMID:29620724 PMID:34645488 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:77,592,560...77,679,262 		JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:27894351 NCBI chr 1:88,241,784...88,273,352
Ensembl chr 1:88,240,477...88,276,847 		JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 4:62,774,896...63,551,541
Ensembl chr 4:62,774,935...63,552,943 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS
ISO 		ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Rpgrip1l Rpgrip1-like ISS
ISO 		ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr14:96,483,648...96,524,238
Ensembl chr14:100,685,093...100,725,470 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 PMID:25741868 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Tmem67 transmembrane protein 67 ISS
ISO 		ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:80,889,487...81,103,163 		JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:27894351 PMID:29209597 PMID:31411728 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,903,252...8,916,079 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 		ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica 		ClinVar PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,258,726...81,267,458 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 PMID:34196655 NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 		ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr12:39,970,554...40,003,727
Ensembl chr12:39,970,621...40,003,725 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29984895 PMID:29984898 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome 		ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
Meckel Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 OMIM
ClinVar		 PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
Meckel Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 11 ClinVar PMID:21565790 PMID:25741868 PMID:28492532 NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:129,680,546...129,699,203 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel syndrome, type 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
Meckel Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12 OMIM
ClinVar		 PMID:16199547 PMID:23308235 PMID:24128419 PMID:25741868 PMID:28492532 More... NCBI chr13:50,478,646...50,542,256
Ensembl chr13:50,478,721...50,542,248 		JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel syndrome 13 ClinVar PMID:25741868 PMID:27571260 PMID:28492532 PMID:29970281 PMID:29984898 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:26123494 PMID:26595381 PMID:27571260 PMID:28492532 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
Meckel Syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel syndrome 14 | ClinVar Annotator: match by term: TXNDC15-related condition OMIM
ClinVar		 PMID:25741868 PMID:27894351 PMID:28492532 PMID:30851085 PMID:31411728 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,903,252...8,916,079 		JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction: 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP 		ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human) 		OMIM
ClinVar
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:11063677, RGD:11070805 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:37,284,545...37,295,858
Ensembl chr 7:37,284,620...37,298,044 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: GOLDSTON SYNDROME | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
Meckel syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:37,472,813...37,640,860 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
Meckel Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,545,371...46,608,730
Ensembl chr10:47,044,819...47,108,203 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,392,464...46,402,151
Ensembl chr10:46,392,411...46,402,151 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,427,789...46,448,449
Ensembl chr10:46,407,993...46,448,648 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 OMIM
ClinVar		 PMID:21493627 PMID:24886560 PMID:25741868 PMID:26092869 PMID:28492532 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,686,133...46,695,428 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,697,238...46,759,092 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,862,983...46,887,499
Ensembl chr10:46,862,369...46,886,277 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,832,390...46,851,523 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,669,721...46,675,806 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,655,722...46,669,740 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,910,285...46,945,331 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,620,602...46,627,528 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,533,580...46,590,128
Ensembl chr10:46,533,583...46,587,096 		JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,490,262...46,532,954
Ensembl chr10:46,489,831...46,533,425 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,851,527...46,898,460
Ensembl chr10:46,851,527...46,899,277 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,638,947...46,912,989
Ensembl chr10:47,138,398...47,412,319 		JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,951,038...47,029,844
Ensembl chr10:46,951,038...47,029,844 		JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12 | ClinVar Annotator: match by term: TTC21B-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,740,875...18,798,924
Ensembl chr19:34,914,322...34,936,743 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,882,238...34,910,944
Ensembl chr19:34,882,304...34,910,944 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,932,631...18,947,667
Ensembl chr19:35,106,802...35,121,101 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:34,488,583...34,547,118 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:35,065,915...35,103,779
Ensembl chr19:35,067,060...35,103,978 		JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,649,803...34,722,846 JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,435,935...18,445,108
Ensembl chr19:34,609,412...34,618,567 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,984,244...35,042,423
Ensembl chr19:34,980,296...35,042,399 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition OMIM
ClinVar		 PMID:9536098 PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 More... NCBI chr19:35,282,149...35,580,775
Ensembl chr19:35,282,110...35,580,773 		JBrowse link
primary ciliary dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,128,056...9,184,312
Ensembl chr20:9,127,803...9,186,563 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,164...11,350,415 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,330,650...10,415,026
Ensembl chr20:10,394,465...10,410,632 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,635,775...10,650,709 		JBrowse link
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18776131 PMID:20537283 PMID:22801010 NCBI chr 6:130,376,499...130,444,674
Ensembl chr 6:130,376,550...130,444,677 		JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:84,093,529...84,144,835
Ensembl chr14:84,093,559...84,144,892 		JBrowse link
G Aptx aprataxin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:61,035,166...61,040,685 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:60,967,558...60,982,618 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:62,548,303...62,551,870 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:61,685,511...61,692,821 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:60,731,602...60,778,445 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:60,864,476...60,878,161 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,174,928...12,186,503 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:50,694,563...50,759,016 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:116,950,907...117,081,759 		JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,505,439...117,519,785
Ensembl chr 8:117,505,408...117,519,797 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,709,395...9,734,066 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISS MouseDO NCBI chr 7:113,097,220...113,103,831 JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:62,544,714...62,548,709 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:118,593,881...118,631,647 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21131974 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,736,002...131,749,761
Ensembl chr 7:131,736,011...131,749,719 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:63,000,138...63,010,123 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522 		JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24747639 More... NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:46,350,717...46,367,113 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519 		JBrowse link
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:144,908,171...144,982,843 		JBrowse link
G Cfap20dc CFAP20 domain containing ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr15:18,661,562...18,907,226
Ensembl chr15:18,661,508...18,907,225 		JBrowse link
G Cfap221 cilia and flagella associated protein 221 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:31636325 NCBI chr13:31,046,550...31,118,141
Ensembl chr13:33,598,895...33,669,549 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:32764743 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:137,359,653...137,436,733 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:60,877,341...60,894,511 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:62,470,367...62,478,198 		JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:164,358,306...164,388,485 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:63,041,184...63,059,215 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:61,619,326...61,645,795 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,784,872...9,788,656
Ensembl chr20:9,784,857...9,788,654 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,158...10,247,199 		JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,091,844...117,094,434
Ensembl chr 8:117,091,845...117,094,366 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:16,030,596...16,065,065 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:28991257 PMID:36074124 NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:91,881,067...91,921,349 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:61,256,353...61,278,119 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:61,676,950...61,684,903 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:64,532,860...64,561,435 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 More... NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22581229 PMID:23891469 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:88,346,453...88,349,853 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:19052621 PMID:24033266 PMID:24498942 More... NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:93,397,164...93,406,323 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:10745040 PMID:16199547 PMID:17576681 PMID:21270786 More... NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23872636 PMID:24033266 PMID:24824133 PMID:25741868 PMID:26139845 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:82,578,755...82,592,205 		JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More... NCBI chr12:20,567,482...20,606,600
Ensembl chr12:20,531,267...20,607,607 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:30067075 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:108,512,953...108,564,972 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:27573432 PMID:27798045 PMID:28492532 PMID:28577616 More... NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:2690980 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18022865 More... NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 More... NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:62,454,838...62,756,730 		JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,694,398...8,948,849 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 PMID:30471718 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,996,796...51,363,963 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 More... NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More... NCBI chr10:99,759,966...99,793,379
Ensembl chr10:100,258,994...100,292,426 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:60,638,410...60,650,160 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:164,260,724...164,275,093 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:109,478,858...109,513,148 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,614,591...10,628,989
Ensembl chr20:10,614,591...10,629,168 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS MouseDO NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:254,357,778...254,375,918 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:12746204 PMID:16199547 PMID:17576681 PMID:23354437 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:31,744,850...31,779,256 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:16,000,425...16,009,632
Ensembl chr  X:16,000,395...16,009,627 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:61,596,860...61,598,657 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:64,369,495...64,374,902 		JBrowse link
G Fam187a family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:87,850,861...87,852,332
Ensembl chr10:88,350,569...88,355,022 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:61,475,185...61,525,749 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:62,706,122...62,715,137 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:64,092,709...64,160,923 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,370
Ensembl chr10:102,065,170...102,069,241 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:64,238,768...64,340,776 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:105,028,106...105,045,365
Ensembl chr10:105,028,307...105,045,366 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:25741868 PMID:30665704 NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,719,999...68,727,171 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:68,461,280...68,480,810
Ensembl chr19:68,461,304...68,480,806 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,514,459...10,522,556
Ensembl chr20:10,514,443...10,522,555 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,922,106...30,943,412
Ensembl chr20:31,464,818...31,486,121 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:12,907,962...12,908,516
Ensembl chr  X:15,580,359...15,581,315 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:62,778,112...62,778,954 		JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:64,524,435...64,540,527
Ensembl chr19:64,525,891...64,540,762 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,035,263...10,121,262
Ensembl chr20:10,035,263...10,121,826 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,129,311...117,133,162
Ensembl chr 8:117,129,277...117,133,146 		JBrowse link
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:117,132,649...117,139,289 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:12,024,739...12,131,501 		JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:55,146,466...55,492,660 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,078...10,610,365 		JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,139,612...117,144,834
Ensembl chr 8:117,139,550...117,144,836 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,058,492...11,097,182 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:61,357,940...61,399,379 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:31,365,647...31,430,793
Ensembl chr20:31,365,656...31,430,792 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,880,182...10,881,054 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,871,991...10,872,927 JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,204...10,940,121 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:93,379,169...93,387,950 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,357...10,762,022 		JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:117,144,464...117,149,185 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,090,641...12,118,230
Ensembl chr20:12,073,543...12,118,253 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:64,470,245...64,521,438
Ensembl chr19:64,470,545...64,521,342 		JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8813877 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 2:46,370,017...46,377,747
Ensembl chr 2:46,370,017...46,377,747 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,060...12,164,651 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:63,336,106...63,396,247 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:93,392,416...93,394,905
Ensembl chr 6:93,390,555...93,395,176 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:64,356,582...64,372,447
Ensembl chr19:64,356,223...64,372,446 		JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:117,452,936...117,471,768 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:62,634,721...62,635,970 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:60,196,585...60,206,055 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,613,786...9,622,941
Ensembl chr13:48,468,224...48,488,847
Ensembl chr20:48,468,224...48,488,847 		JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,501,351...47,527,722
Ensembl chr19:64,409,751...64,436,369 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,900,140...60,958,889
Ensembl chr 5:60,901,217...60,958,889 		JBrowse link
G Nme8 NME/NM23 family member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:17360648 PMID:20301301 PMID:22499950 PMID:24033266 More... NCBI chr17:49,932,861...50,000,610
Ensembl chr17:49,932,860...50,000,608 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:61,055,863...61,083,264 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:117,094,441...117,097,637 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:61,424,053...61,439,015 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:59,910,757...60,103,547 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:28,796,701...28,810,511 		JBrowse link
G Odad4 outer dynein arm docking complex subunit 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,980,440...86,008,943 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:11179005 PMID:12595504 PMID:16783569 PMID:18414213 PMID:18546297 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:62,876,908...62,877,867 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:62,757,159...62,758,097 		JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:64,380,336...64,409,165
Ensembl chr19:64,401,173...64,409,162 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:15,126,358...15,202,473
Ensembl chr  X:15,126,358...15,239,555 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:63,560,722...63,739,987 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,677,751...11,877,722 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS MouseDO NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,471,136...9,564,286
Ensembl chr20:9,471,167...9,564,286 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,663,907...10,685,967
Ensembl chr20:10,663,955...10,685,966 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:61,939,900...61,966,875 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,664,312...9,706,349 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,366,636...11,378,252
Ensembl chr20:11,366,636...11,377,824 		JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:93,410,713...93,448,782
Ensembl chr 6:93,410,758...93,435,361 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:64,075,123...64,090,900
Ensembl chr 5:64,075,122...64,091,039 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:50,633,973...50,691,624
Ensembl chr11:50,633,973...50,691,823 		JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 NCBI chr12:20,606,066...20,738,766
Ensembl chr12:20,618,757...20,738,766 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:71,169,749...71,173,223 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,029,608...11,047,395
Ensembl chr20:11,029,608...11,046,909 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,013...10,513,309 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:144,580,976...144,822,908 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:117,103,362...117,114,805 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,298,866...117,328,107
Ensembl chr 8:117,299,084...117,327,706 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,327,607...117,431,397
Ensembl chr 8:117,331,325...117,431,397 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270 		JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,562,490...31,615,967 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:62,630,133...62,638,864 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
G Rn7sl1 RNA component of signal recognition particle 7SL1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:93,372,868...93,373,167 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:63,154,507...63,263,137 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:349855 PMID:3253185 PMID:3646071 PMID:8673101 PMID:8817343 More... NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpl36al1 ribosomal protein L36A like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:93,390,864...93,392,258
Ensembl chr 6:93,390,866...93,391,296
Ensembl chr20:93,390,866...93,391,296 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168 		JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:93,371,293...93,372,731
Ensembl chr13:87,816,954...87,817,267
Ensembl chr 6:87,816,954...87,817,267 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,260,580...10,271,829
Ensembl chr20:10,260,592...10,275,076 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,122,825...10,148,404
Ensembl chr20:10,122,812...10,148,404 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23993197 PMID:24033266 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:49,506,988...49,565,740
Ensembl chr 1:49,506,830...49,559,257 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More... NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:22,337,668...22,351,448 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:117,150,589...117,157,658 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:117,236,269...117,265,206 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,947,104...9,958,729
Ensembl chr20:9,947,105...9,958,698 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:62,536,009...62,537,911 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,379,664...9,435,229 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:117,202,536...117,218,630 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:64,432,524...64,468,852
Ensembl chr19:64,437,013...64,463,960 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,114,214...11,147,112
Ensembl chr20:11,114,214...11,147,085 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:60,652,680...60,671,251 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:145,330,416...145,395,146 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 More... NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:62,693,122...62,699,664 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:61,861,071...61,878,519 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:61,995,800...61,999,889 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,073,543...12,118,253 		JBrowse link
G Spef2 sperm flagellar 2 ISS
ISO 		ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:25741868 PMID:31942643 NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:60,239,655...60,421,850 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:60,849,060...60,860,823 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:61,462,070...61,474,774 		JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:15,349,498...15,420,389
Ensembl chr  X:15,349,440...15,420,392 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,009,730...11,020,502
Ensembl chr20:11,009,734...11,020,287 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:15,461,215...15,702,660
Ensembl chr  X:15,460,472...15,550,471 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400 PMID:19944405 PMID:24033266 PMID:28492532 NCBI chr19:64,561,079...64,567,599
Ensembl chr19:64,560,562...64,567,599 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,237,095...9,240,956 		JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,217,110...9,220,979
Ensembl chr20:9,217,121...9,220,979 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,194,623...9,199,333
Ensembl chr20:9,194,626...9,199,333 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:62,583,731...62,613,687 		JBrowse link
G Tmem115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,086,106...117,090,970
Ensembl chr 8:117,086,106...117,090,970 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:60,406,763...60,413,601 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:62,715,203...62,744,174 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22387996 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,349,035...78,359,394
Ensembl chr 1:78,349,035...78,359,394 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191 JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:12,197,491...12,204,343 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:117,520,441...117,540,253 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,438,404...10,498,740
Ensembl chr20:10,438,404...10,498,740 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:64,344,545...64,368,172 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,703,190...10,752,795
Ensembl chr20:10,704,482...10,752,802 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,771,371...10,943,708 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:23255504 More... NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:118,581,773...118,591,502 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISS MouseDO NCBI chr 7:116,499,536...116,528,833
Ensembl chr 7:116,499,535...116,528,833 		JBrowse link
G Tusc2 tumor suppressor 2, mitochondrial calcium regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:117,115,479...117,118,697
Ensembl chr 8:117,115,479...117,118,697 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,744,206...9,755,146
Ensembl chr20:9,744,207...9,755,094 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:61,316,643...61,357,076 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:61,144,182...61,232,828 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,287,590...9,344,772 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,325...11,005,187 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:61,082,552...61,141,452 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,029,128...9,086,613 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:16,108,913...16,145,322
Ensembl chr  X:16,108,915...16,145,409 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,164,723...12,174,199 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:50,781,697...50,796,399
Ensembl chr11:50,781,099...50,796,560 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:64,039,805...64,062,451
Ensembl chr 5:64,035,080...64,074,912 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:63,788,217...63,968,549 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23891469 PMID:23891471 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:31,327,939...31,358,088
Ensembl chr20:31,327,940...31,358,023 		JBrowse link
primary ciliary dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO
ISS 		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition
OMIM:244400 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More... NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
primary ciliary dyskinesia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO
ISS 		ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10
OMIM:612518
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:93,397,164...93,406,323 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:93,392,416...93,394,905
Ensembl chr 6:93,390,555...93,395,176 		JBrowse link
primary ciliary dyskinesia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 | ClinVar Annotator: match by term: RSPH4A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsph9 radial spoke head component 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 		OMIM
CTD
ClinVar		 PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:22,337,668...22,351,448 		JBrowse link
primary ciliary dyskinesia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:64,532,860...64,561,435 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 ClinVar PMID:25741868 NCBI chr19:64,561,079...64,567,599
Ensembl chr19:64,560,562...64,567,599 		JBrowse link
primary ciliary dyskinesia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO
ISS 		ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14
OMIM:613807 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 More... NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:118,593,881...118,631,647 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 ClinVar PMID:21131972 PMID:23255504 PMID:23891469 PMID:24033266 PMID:25741868 More... NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:118,581,773...118,591,502 		JBrowse link
primary ciliary dyskinesia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131974 PMID:22499950 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:105,028,106...105,045,365
Ensembl chr10:105,028,307...105,045,366 		JBrowse link
primary ciliary dyskinesia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:109,809,092...109,829,725
Ensembl chr 6:109,809,122...109,829,743 		JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:109,786,363...109,812,147 		JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:109,738,934...109,750,315
Ensembl chr 6:109,738,951...109,750,310 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 OMIM
ClinVar		 PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:109,478,858...109,513,148 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:109,750,210...109,786,376
Ensembl chr 6:109,753,204...109,786,495 		JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:109,722,569...109,750,036 		JBrowse link
G Lin52 lin-52 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:109,829,896...109,927,122
Ensembl chr 6:109,830,131...109,925,310 		JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:109,519,011...109,560,312 		JBrowse link
G Pnma1 PNMA family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:109,507,773...109,515,451 		JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:109,662,469...109,694,232
Ensembl chr 6:109,662,498...109,694,232 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:109,948,313...109,971,100 		JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:21496787 PMID:28492532 NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:109,695,185...109,722,569 		JBrowse link
primary ciliary dyskinesia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf19 dynein axonemal assembly factor 19 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 OMIM
ClinVar		 PMID:16199547 PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:88,346,453...88,349,853 		JBrowse link
G Fam187a family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:87,850,861...87,852,332
Ensembl chr10:88,350,569...88,355,022 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar PMID:25741868 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		JBrowse link
primary ciliary dyskinesia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 NCBI chr14:1,329,073...1,360,781
Ensembl chr14:1,329,032...1,360,769 		JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More... NCBI chr12:20,567,482...20,606,600
Ensembl chr12:20,531,267...20,607,607 		JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 PMID:28492532 PMID:29363216 NCBI chr12:20,606,066...20,738,766
Ensembl chr12:20,618,757...20,738,766 		JBrowse link
primary ciliary dyskinesia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf11 dynein axonemal assembly factor 11 ISO
ISS 		ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19
OMIM:614935 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 More... NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
primary ciliary dyskinesia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO
ISS 		ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2
OMIM:606763
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10745040 PMID:17576681 PMID:22387996 PMID:24033266 More... NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253 		JBrowse link
primary ciliary dyskinesia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: ODAD1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
primary ciliary dyskinesia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drc1 dynein regulatory complex subunit 1 ISO
ISS 		ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 21
OMIM:615294 		OMIM
ClinVar
MouseDO		 PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:31,744,850...31,779,256 		JBrowse link
primary ciliary dyskinesia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rassf1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 ClinVar PMID:25741868 NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:117,103,362...117,114,805 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO
ISS 		OMIM:615444
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition 		OMIM
MouseDO
ClinVar		 PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
primary ciliary dyskinesia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad2 outer dynein arm docking complex subunit 2 ISO
ISS 		ClinVar Annotator: match by term: Primary ciliary dyskinesia 23
OMIM:615451 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:59,910,757...60,103,547 		JBrowse link
primary ciliary dyskinesia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 | ClinVar Annotator: match by term: RSPH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
primary ciliary dyskinesia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISS
ISO 		OMIM:615482
ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 		MouseDO
OMIM
ClinVar		 PMID:12954984 PMID:16199547 PMID:23872636 PMID:24033266 PMID:24824133 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:82,578,755...82,592,205 		JBrowse link
primary ciliary dyskinesia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: CFAP298-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 OMIM
ClinVar		 PMID:24094744 PMID:25741868 PMID:26904945 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:43,668,014...43,677,382 		JBrowse link
primary ciliary dyskinesia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23991085 PMID:24033266 More... NCBI chr 7:131,736,002...131,749,761
Ensembl chr 7:131,736,011...131,749,719 		JBrowse link
primary ciliary dyskinesia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 ClinVar PMID:24055112 NCBI chr 7:69,241,233...69,244,579
Ensembl chr 7:69,232,179...69,244,578 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24055112 More... NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
primary ciliary dyskinesia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccno cyclin O ISO ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 OMIM
ClinVar		 PMID:24747639 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 More... NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:46,350,717...46,367,113 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 ClinVar PMID:8900227 PMID:9600243 PMID:10649503 PMID:10699052 PMID:10960496 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
primary ciliary dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar PMID:28492532 NCBI chr 5:51,428,802...51,779,030
Ensembl chr 5:51,434,870...51,774,234 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO
ISS 		ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
OMIM:608644
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2127064 PMID:2389146 PMID:9536098 PMID:11062149 PMID:11788826 More... NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,719,999...68,727,171 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar PMID:25741868 PMID:26373788 PMID:30067075 NCBI chr 7:8,374,941...8,383,281
Ensembl chr 7:9,026,905...9,034,795 		JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 2:46,370,017...46,377,747
Ensembl chr 2:46,370,017...46,377,747 		JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 1:218,876,848...218,881,364
Ensembl chr 1:218,876,069...218,908,715 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088 		JBrowse link
primary ciliary dyskinesia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS 		ClinVar Annotator: match by term: Primary ciliary dyskinesia 30
OMIM:616037 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 More... NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:28,796,701...28,810,511 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 ClinVar PMID:25741868 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:28,810,889...28,822,503 		JBrowse link
primary ciliary dyskinesia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:49,282,243...49,298,951 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:49,373,033...49,416,573
Ensembl chr 1:49,373,035...49,416,573 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:49,686,856...49,769,263 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:49,061,904...49,068,612
Ensembl chr 1:49,061,959...49,070,039 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26073779 More... NCBI chr 1:49,506,988...49,565,740
Ensembl chr 1:49,506,830...49,559,257 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:49,025,845...49,061,853 		JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:49,300,935...49,372,533
Ensembl chr 1:49,302,182...49,372,531 		JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:49,575,750...49,583,838 		JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:49,236,025...49,290,616 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:49,082,492...49,218,262
Ensembl chr 1:49,087,886...49,218,250 		JBrowse link
primary ciliary dyskinesia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,743,660...67,784,109
Ensembl chr19:67,743,490...67,784,084 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,534,737...67,537,027 JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:66,916,417...66,994,286
Ensembl chr19:66,916,267...66,991,317 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:66,881,678...66,911,486
Ensembl chr19:66,881,693...66,911,486 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:67,589,258...67,658,136 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,812,169...67,834,986
Ensembl chr19:67,812,164...67,834,985 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,168,040...68,184,923
Ensembl chr19:68,169,874...68,177,599 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,529,249...67,534,195
Ensembl chr19:67,529,201...67,534,194 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,146,672...68,154,952
Ensembl chr19:68,146,672...68,154,952 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,164,316...51,182,676
Ensembl chr19:68,074,545...68,091,197 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:67,447,487...67,453,163 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:67,396,143...67,404,214 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,447,641...68,461,272
Ensembl chr19:68,447,635...68,458,797 		JBrowse link
G Def8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,474,783...51,495,638
Ensembl chr19:68,383,349...68,404,125 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,118,270...68,143,781
Ensembl chr19:68,118,453...68,143,775 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:67,534,737...67,571,191 		JBrowse link
G Gas8 growth arrest specific 8 ISO
ISS 		ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
OMIM:616726 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 More... NCBI chr19:68,461,280...68,480,810
Ensembl chr19:68,461,304...68,480,806 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:67,393,435...67,394,714 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:66,702,497...66,763,948
Ensembl chr19:66,702,680...66,763,937 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:66,769,558...66,802,626
Ensembl chr19:66,769,558...66,838,346 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:68,360,950...68,363,877 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,404,911...67,414,974
Ensembl chr19:67,404,911...67,422,366 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:67,578,496...67,581,895 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,437,974...67,447,814
Ensembl chr19:67,437,974...67,447,814 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,062,442...68,065,065
Ensembl chr19:68,062,493...68,065,059 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:67,425,157...67,434,268 		JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,269,078...51,273,605
Ensembl chr19:68,176,615...68,182,069 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,246,514...51,258,894
Ensembl chr19:68,155,326...68,167,262 		JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,281,878...68,320,427
Ensembl chr19:68,281,870...68,320,427 		JBrowse link
G Tcf25 TCF25 ribosome quality control complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:68,323,867...68,358,240 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,570,954...67,574,722 JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,276,998...51,290,726
Ensembl chr19:68,185,517...68,199,244 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,344,422...67,388,400
Ensembl chr19:67,343,434...67,388,399 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:27,241,522...27,261,331 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:68,199,265...68,212,757 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:67,179,751...67,299,149 		JBrowse link
primary ciliary dyskinesia 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: DNAJB13-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 OMIM
ClinVar		 PMID:25741868 PMID:27486783 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:164,260,724...164,275,093 		JBrowse link
primary ciliary dyskinesia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad4 outer dynein arm docking complex subunit 4 ISO
ISS 		OMIM:617092
ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 		OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:27486780 NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,980,440...86,008,943 		JBrowse link
primary ciliary dyskinesia 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked | ClinVar Annotator: match by term: DNAAF6-related condition OMIM
ClinVar		 PMID:25741868 PMID:28041644 PMID:28492532 PMID:32170493 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:108,512,953...108,564,972 		JBrowse link
primary ciliary dyskinesia 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 | ClinVar Annotator: match by term: DNAH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 More... NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,462,419...6,524,760 		JBrowse link
primary ciliary dyskinesia 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: CFAP300-related condition | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29727692 PMID:29727693 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:13,464,984...13,483,839 		JBrowse link
primary ciliary dyskinesia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30388400 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
primary ciliary dyskinesia 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 40, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 | ClinVar Annotator: match by term: DNAH9-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,996,796...51,363,963 		JBrowse link
G E2f6 E2F transcription factor 6 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 ClinVar PMID:25741868 NCBI chr 6:45,320,993...45,337,437
Ensembl chr 6:45,320,996...45,337,428 		JBrowse link
primary ciliary dyskinesia 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:30665704 NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,719,999...68,727,171 		JBrowse link
primary ciliary dyskinesia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 | ClinVar Annotator: match by term: MCIDAS-related condition OMIM
ClinVar		 PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 More... NCBI chr 2:46,370,017...46,377,747
Ensembl chr 2:46,370,017...46,377,747 		JBrowse link
primary ciliary dyskinesia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxj1 forkhead box J1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 OMIM
ClinVar		 PMID:25741868 PMID:31630787 PMID:33077954 PMID:34132502 NCBI chr10:101,566,299...101,570,370
Ensembl chr10:102,065,170...102,069,241 		JBrowse link
primary ciliary dyskinesia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek10 NIMA-related kinase 10 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 OMIM
ClinVar		 PMID:25741868 PMID:31959991 NCBI chr15:12,808,981...13,013,679
Ensembl chr15:12,813,606...13,013,567 		JBrowse link
primary ciliary dyskinesia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 ClinVar PMID:25741868 NCBI chr 4:106,622,235...106,842,461
Ensembl chr 4:106,612,973...106,842,417 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 | ClinVar Annotator: match by term: TTC12-related condition OMIM
ClinVar		 PMID:1978331 PMID:25741868 NCBI chr 8:58,696,381...58,743,857
Ensembl chr 8:58,696,385...58,742,717 		JBrowse link
Primary Ciliary Dyskinesia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28543983 NCBI chr 9:83,625,905...83,652,785
Ensembl chr 9:83,626,030...83,653,525 		JBrowse link
Primary Ciliary Dyskinesia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus OMIM
ClinVar		 PMID:25741868 PMID:32185794 PMID:32950024 NCBI chr18:26,437,705...26,454,828
Ensembl chr18:26,437,781...26,454,828 		JBrowse link
Primary Ciliary Dyskinesia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: CFAP74-related condition | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus OMIM
ClinVar		 PMID:25741868 PMID:32555313 PMID:36047773 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:171,262,113...171,328,349 		JBrowse link
primary ciliary dyskinesia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 More... NCBI chr19:38,236,996...38,583,271
Ensembl chr19:55,146,466...55,492,660 		JBrowse link
Primary Ciliary Dyskinesia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 | ClinVar Annotator: match by term: DNAH7-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34476482 PMID:35543642 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:62,454,838...62,756,730 		JBrowse link
Primary Ciliary Dyskinesia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd1 bromodomain and WD repeat domain containing 1 ISO ClinVar Annotator: match by term: BRWD1-related condition | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51 OMIM
ClinVar		 PMID:25741868 PMID:33389130 NCBI chr11:48,756,174...48,853,692
Ensembl chr11:48,756,811...48,848,256 		JBrowse link
Primary Ciliary Dyskinesia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daw1 dynein assembly factor with WD repeats 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 OMIM
ClinVar		 PMID:25741868 PMID:28991257 PMID:36074124 NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:91,881,067...91,921,349 		JBrowse link
Primary Ciliary Dyskinesia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53 OMIM
ClinVar		 PMID:25741868 PMID:36727596 NCBI chr11:85,977,231...85,996,561
Ensembl chr11:99,487,448...99,500,760 		JBrowse link
Primary Ciliary Dyskinesia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap54 cilia and flagella associated protein 54 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 54 OMIM
ClinVar		 PMID:37725231 NCBI chr 7:27,316,498...27,601,630
Ensembl chr 7:29,202,722...29,491,189 		JBrowse link
primary ciliary dyskinesia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:29,134,222...29,197,513 		JBrowse link
G Aoah acyloxyacyl hydrolase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:43,808,110...44,049,458
Ensembl chr17:48,503,812...48,745,146 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:48,982,188...49,518,525
Ensembl chr17:48,982,188...49,518,159 		JBrowse link
G Gpr141 G protein-coupled receptor 141 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:45,117,818...45,180,053
Ensembl chr17:49,733,713...49,875,719 		JBrowse link
G Matcap2 microtubule associated tyrosine carboxypeptidase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:29,196,927...29,247,058 		JBrowse link
G Nme8 NME/NM23 family member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 More... NCBI chr17:49,932,861...50,000,610
Ensembl chr17:49,932,860...50,000,608 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:50,015,812...50,026,395 		JBrowse link
primary ciliary dyskinesia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 ClinVar PMID:18022865 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:144,908,171...144,982,843 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO
ISS 		ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7
OMIM:611884
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2690980 PMID:9536098 PMID:9585585 PMID:12142464 PMID:16199547 More... NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
primary ciliary dyskinesia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:16199547 PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532 More... NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:118,593,881...118,631,647 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:1284534 PMID:7512860 PMID:7529319 PMID:7539342 PMID:7544320 More... NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:19944400 PMID:19944405 PMID:25741868 PMID:28492532 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:64,532,860...64,561,435 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:88,346,453...88,349,853 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:9536098 PMID:17576681 PMID:18022865 PMID:20513915 PMID:22184204 More... NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:24498942 PMID:25741868 More... NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:80,668,208...80,985,914 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 | ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More... NCBI chr10:99,759,966...99,793,379
Ensembl chr10:100,258,994...100,292,426 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:16783569 PMID:18546297 PMID:25741868 PMID:27081566 PMID:28492532 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis ClinVar PMID:19200523 PMID:20301301 PMID:23993197 PMID:25741868 PMID:28492532 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: CENPF-related condition | ClinVar Annotator: match by term: Stromme syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26197979 More... NCBI chr13:103,715,344...103,760,931
Ensembl chr13:103,715,344...103,760,886 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      ciliopathy 1034
        Alstrom syndrome 14
        Bardet-Biedl syndrome + 237
        Caroli disease + 4
        Ciliary Motility Disorders + 381
        Joubert syndrome + 415
        Meckel syndrome + 54
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            ciliopathy 1034
              Alstrom syndrome 14
              Bardet-Biedl syndrome + 237
              Caroli disease + 4
              Ciliary Motility Disorders + 381
              Joubert syndrome + 415
              Meckel syndrome + 54
paths to the root