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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 Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:26275418 PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
JBrowse link
G Kif7 kinesin family member 7 ISS MouseDO NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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 chr16:6,144,959...6,188,932
JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISS MouseDO NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS MouseDO NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:25869670 PMID:28492532 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 PMID:28771248 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
JBrowse link
G Wdr19 WD repeat domain 19 ISO
ISS
DNA:missense mutation:cds:p.L750P (mouse) MouseDO
RGD
PMID:22228095 RGD:11552606 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
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 4:117,725,155...117,741,613
JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
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 4:117,984,742...117,989,886
JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
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 chr11:82,645,974...82,692,574
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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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 chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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 chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
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 chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 PMID:28492532 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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 chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:22773737 More... RGD:1578724 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 3:37,689,994...37,720,358
Ensembl chr 3:37,690,382...37,718,018
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 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
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 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Banf1 BAF 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 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
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 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:8316268 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 More... RGD:1579969 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... RGD:9684996 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
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 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
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 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
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 chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
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:29127258 PMID:16327777 RGD:9685059 NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703
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 chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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 chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
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 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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 chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
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 chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
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 chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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 chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
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 chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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 chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
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 chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Dhrs9 dehydrogenase/reductase 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,147,834...54,170,052
Ensembl chr 3:54,147,803...54,220,241
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 chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
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 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
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 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
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 chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
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 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332
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 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831
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 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
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 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445
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 chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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 chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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 chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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 chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
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 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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 chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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 chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
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 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222
JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
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 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
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 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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 chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
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 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
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:9536098 PMID:10802661 PMID:10973238 PMID:10973251 More... RGD:1601414, RGD:1581208 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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:28492532 PMID:31456290 PMID:18327255 RGD:11070512 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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 chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
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 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
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 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
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 chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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 chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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 chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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 chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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 chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15776426 PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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 4:86,161,642...86,204,656
Ensembl chr 4:86,161,643...86,204,628
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 chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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 chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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 chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
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 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888
JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,082,146...96,089,161
Ensembl chr14:96,082,151...96,089,086
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 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
JBrowse link
G Peli1 pellino E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285
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 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
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 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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 chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
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 chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
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 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
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 chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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 chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
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 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095
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 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868
JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
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 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
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 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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 chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604
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 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
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 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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 chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
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 chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
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 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
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 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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 chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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 chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
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 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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 chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
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 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182
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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
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 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
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 chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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 chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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 chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
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 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
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 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
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 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
JBrowse link
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor 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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO
ISS
ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
OMIM:209900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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:25741868 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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 chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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 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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888
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 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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 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 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 15
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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:24033266 More... NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16
OMIM:615993
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
ISS
OMIM:615994
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition
OMIM
MouseDO
CTD
ClinVar
PMID:22510444 PMID:23692385 PMID:25741868 PMID:28492532 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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
OMIM:615995
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:28492532 More... NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24488770 PMID:25741868 PMID:27894351 PMID:28492532 PMID:29704304 More... NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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 condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
OMIM:615981
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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:24140113 PMID:24290075 PMID:25168386 PMID:25741868 PMID:26763875 More... NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-biedl syndrome 21
OMIM
CTD
ClinVar
PMID:22177090 PMID:25515582 PMID:25741868 PMID:26355662 PMID:26854863 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Ift74 intraflagellar transport 74 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27486776 PMID:28492532 More... NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
JBrowse link
Bardet-Biedl syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor 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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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 chr11:39,757,501...40,708,901
Ensembl chr11:39,757,181...40,698,311
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 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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
OMIM:615983
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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 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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
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 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 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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 chr16:71,088,364...71,138,804
JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:31595528 PMID:32617964 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
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 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
Ciliary Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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 chr20:8,692,963...8,946,772
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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 3:9,216,776...9,229,450
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:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407 PMID:17558409 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
JBrowse link
Joubert syndrome 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: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:17377524 PMID:25741868 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18674751 PMID:23150559 PMID:23153492 PMID:25741868 PMID:26092869 More... NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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:17576681 PMID:24886560 PMID:25741868 PMID:26092869 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:21763481 PMID:26092869 PMID:28771248 PMID:33234550 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988 PMID:26092869 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:26477546 PMID:28492532 PMID:35372954 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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:20301500 PMID:21679365 PMID:22236771 PMID:22425360 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar
RGD
PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 More... RGD:12911208 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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:29343805 More... NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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 NCBI chr 2:87,025,671...87,060,313
Ensembl chr 2:87,025,598...87,060,294
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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:23559409 PMID:25741868 PMID:28002029 PMID:28492532 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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:12595504 PMID:16199547 PMID:16311594 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30193310 PMID:34196655 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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:16199547 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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:16199547 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 More... NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:21462283 PMID:21565611 PMID:25118024 PMID:25741868 PMID:26092869 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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:27081510 PMID:28102635 More... NCBI chr 1:207,219,113...207,226,159 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:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:23012439 PMID:23169490 PMID:23349226 PMID:25741868 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar
RGD
PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 More... RGD:11561921 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Zic1 Zic family member 1 ISS MouseDO NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
Joubert syndrome 1 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: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
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 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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: 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 chr10:46,186,691...46,196,008
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
JBrowse link
G C10h17orf67 similar to human chromosome 17 open reading frame 67 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,895,343...73,916,133
Ensembl chr10:73,895,343...73,916,133
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:24997988 PMID:25741868 PMID:26092869 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G C7h12orf50 similar to human chromosome 12 open reading frame 50 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr 7:111,216,835...111,223,305 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 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
JBrowse link
G Cd38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Chct1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542
JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 PMID:28679688 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,789,077...73,810,378
Ensembl chr10:73,789,488...73,810,393
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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 Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905
JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,892,637...72,986,546
Ensembl chr10:72,892,637...72,986,542
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,584,546...71,621,479
Ensembl chr10:71,583,716...71,621,445
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
JBrowse link
G Dynll2 dynein light chain LC8-type 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,767,035...72,785,824
Ensembl chr10:72,767,035...72,785,805
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
JBrowse link
G Egfl6 EGF-like-domain, multiple 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,884,087...27,942,044
Ensembl chr  X:27,884,125...27,942,044
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:30905400 NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
JBrowse link
G Fbxl5 F-box and leucine-rich repeat protein 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:67,305,109...67,347,383
Ensembl chr14:67,267,801...67,347,383
JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
JBrowse link
G Fgfbp1 fibroblast growth factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:17558409 PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,840,497...71,883,936
Ensembl chr10:71,840,497...71,883,850
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621
JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105
JBrowse link
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24140113 PMID:25741868 PMID:26092869 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E 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 syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26714646 NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21633164 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,606,950...72,626,220
Ensembl chr10:72,606,944...72,626,535
JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr12:14,899,188...14,927,949
Ensembl chr12:14,899,157...14,927,946
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
JBrowse link
G Mir21 microRNA 21 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
JBrowse link
G Msi2 musashi RNA-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,143,760...73,510,566
Ensembl chr10:73,147,380...73,510,157
JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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: 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:28,015,347...28,056,110
JBrowse link
G Olr1523 olfactory receptor 1523 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,708,272...72,709,213
Ensembl chr10:72,707,063...72,715,311
JBrowse link
G Or4d2b olfactory receptor family 4 subfamily D member 2B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,693,014...72,693,949
Ensembl chr10:72,689,839...72,696,182
JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20232449 PMID:23559409 PMID:28492532 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25558065 PMID:27894351 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26167768 PMID:28492532 NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
JBrowse link
G Rab9a RAB9A, member RAS oncogene family ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,955,552...28,009,870
Ensembl chr  X:27,952,204...28,001,622
JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,310,104...71,323,778
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: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,703,275...73,732,892
Ensembl chr10:73,703,278...73,732,850
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
JBrowse link
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,886,742...71,895,776
Ensembl chr10:71,886,744...71,895,760
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
JBrowse link
G Supt4h1 SPT4 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,539,323...72,545,582
Ensembl chr10:72,539,382...72,545,831
JBrowse link
G Sycp3l1 synaptonemal complex protein 3 like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr 1:186,108,544...186,111,598
Ensembl chr 1:186,108,920...186,109,630
JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:66,873,467...66,919,737
Ensembl chr14:66,873,459...66,919,741
JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
JBrowse link
G Tceanc transcription elongation factor A N-terminal and central domain containing ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,952,539...27,961,038
Ensembl chr  X:27,952,457...27,960,940
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: 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 chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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 1:207,196,454...207,201,754
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
JBrowse link
G Tmem67 transmembrane protein 67 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:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:27,144,666...27,146,667
Ensembl chr  X:27,128,610...27,146,667
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:32453716 PMID:32747439 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 More... NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346
JBrowse link
G Trim25 tripartite motif-containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,812,818...73,831,271
Ensembl chr10:73,812,818...73,831,257
JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
JBrowse link
G Tubd1 tubulin, delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137
JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111
JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007
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 chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
G Ypel2 yippee-like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,746,308...71,803,843
Ensembl chr10:71,746,311...71,803,911
JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 More... NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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 9:60,434,925...60,530,806
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 9:60,569,734...60,611,797
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 9:60,414,182...60,433,084
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 9:60,535,233...60,572,567
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: Joubert syndrome 15 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:21438139 More... NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 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:24033266 PMID:25741868 PMID:28492532 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 2:57,268,884...57,369,500
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 9:66,442,054...66,444,067
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 chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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:22883145 PMID:25118024 PMID:25741868 PMID:26092869 More... NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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 1:207,196,454...207,201,754
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 chr19:39,918,083...39,956,886
Ensembl chr19:39,918,227...39,956,883
JBrowse link
G Chst5 carbohydrate sulfotransferase 5 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 chr19:39,860,501...39,881,064
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 chr19:39,910,534...39,924,628
Ensembl chr 8:39,910,534...39,924,628
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 chr19:39,957,846...39,977,632
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
Ensembl chr19:39,833,980...39,846,783
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert syndrome 20 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
Joubert syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ADP ribosylation factor 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 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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 5:8,526,741...8,888,485
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 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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 5:9,227,204...9,274,453
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 5:9,297,489...9,297,573
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 5:9,227,131...9,279,636
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 9:87,753,648...87,757,836
JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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 9:87,765,860...87,768,606
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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 9:86,956,220...86,960,170
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 9:86,691,867...86,698,185
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 9:86,463,095...86,524,544
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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 9:87,238,375...87,263,967
JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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 9:87,356,457...87,736,616
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 9:88,795,488...88,796,560
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 9:87,816,718...87,826,675
JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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 9:86,590,885...86,640,613
JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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 9:86,545,921...86,559,742
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 9:88,063,003...88,071,112
JBrowse link
G LOC120094883 small nucleolar RNA SNORD82 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
JBrowse link
G LOC120094885 small nucleolar RNA SNORD20 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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 9:88,814,197...88,852,607
JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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 9:88,249,135...88,267,355
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 9:88,146,956...88,244,914
JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Joubert syndrome 22 OMIM
ClinVar
PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 More... NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
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 9:87,854,805...87,859,978
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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 9:88,469,376...88,508,820
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 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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 9:86,224,513...86,274,542
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 9:86,659,784...86,672,272
JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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 9:87,075,684...87,077,102
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 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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 6:89,623,699...89,725,962
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 6:89,483,727...89,504,965
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 6:89,610,094...89,622,924
Ensembl chr 6:89,610,094...89,622,924
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 6:89,599,873...89,610,147
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 chr12:31,822,733...32,007,069
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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 5:166,500,781...166,515,481
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 5:165,236,086...165,237,629
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 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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 5:166,397,748...166,400,953
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 5:164,844,161...164,866,212
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 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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 5:166,551,628...166,556,003
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 5:166,701,676...166,719,955
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 5:164,585,267...164,599,355
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 5:166,417,508...166,436,882
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 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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 5:164,534,782...164,567,248
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 5:165,979,805...166,046,071
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 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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 5:166,300,122...166,310,326
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 5:165,958,484...165,970,411
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 5:166,075,629...166,142,124
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 5:165,522,234...165,523,001
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 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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 5:164,570,435...164,580,174
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 5:164,738,352...164,839,139
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 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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 5:166,648,494...166,648,582 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 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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 5:165,431,343...165,461,716
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 5:166,239,644...166,242,433
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 5:165,646,991...165,704,892
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 5:166,408,962...166,413,492
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 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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 5:166,145,481...166,176,322
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 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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 5:165,525,402...165,542,135
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 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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 5:165,462,610...165,465,213 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 5:166,496,755...166,500,611
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 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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 5:166,724,984...166,725,751
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 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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 5:166,586,390...166,604,521
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 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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 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 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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 5:166,469,589...166,472,742
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 5:166,344,386...166,350,636
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 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B 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 5:166,391,080...166,393,904
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 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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 5:166,618,969...166,622,353
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 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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 5:165,411,058...165,428,857
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 5:166,630,152...166,653,707
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 5:166,533,418...166,547,804
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 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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 5:164,706,163...164,721,643
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
OMIM:616784
ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:26714646 PMID:27245168 PMID:28492532 NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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:21493627 PMID:24886560 PMID:25741868 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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: Joubert syndrome 3
OMIM:608629
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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: Joubert syndrome 30 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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: Joubert syndrome 31 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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
OMIM
PMID:16199547 PMID:22508808 PMID:25741868 PMID:27930734 PMID:28492532 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
Joubert syndrome 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 33 OMIM
ClinVar
PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 More... NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
JOUBERT SYNDROME 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 35 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30269812 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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 chr15:3,923,842...3,928,118
Ensembl chr15:3,923,268...3,928,118
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 chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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 6:83,018,859...83,082,807
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 chr10:56,783,775...56,832,968
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 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Joubert syndrome 4 ClinVar PMID:25741868 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4
CTD Direct Evidence: marker/mechanism
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
CTD
RGD
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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 chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... RGD:11537350 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
Joubert syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor 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 chr11:150,955...217,197
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 chr11:37,490,838...37,568,543
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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 chr11:171,395...179,191
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 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS MouseDO NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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 chr10:104,486,748...104,527,243
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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 chr19:47,624,181...47,652,313
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 7:98,144,763...98,245,837
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 6:87,660,821...87,670,199
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:22387996 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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 8:73,698,103...73,711,292
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 chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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:16199547 PMID:16858015 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS MouseDO NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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 6:103,747,753...103,778,878
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 6:26,025,005...26,059,414
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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 chr17:55,218,991...55,409,399
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 8:20,520,898...20,534,499
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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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 7:67,361,477...67,421,368
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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 chr12:31,822,733...32,007,069
JBrowse link
G B9d1 B9 domain containing 1 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:3631907 PMID:16199547 PMID:18414213 PMID:18950740 PMID:19466712 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 1:257,629,208...257,675,247
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 8:12,156,568...12,194,542
Ensembl chr 8:12,156,554...12,194,552
JBrowse link
G Cep55 centrosomal protein 55 ISS MouseDO NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
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 5:57,675,462...57,678,611
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 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:79,113,784...79,145,359
Ensembl chr 1:79,112,506...79,145,465
JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 4:61,807,706...62,584,316
Ensembl chr 4:61,807,761...62,585,723
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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 6:89,623,699...89,725,962
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:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30193310 PMID:34196655 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rpgrip1l Rpgrip1-like ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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 chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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 chr12:31,822,733...32,007,069
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 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 1:207,196,454...207,201,754
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 chr19:39,883,077...39,904,269
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 9:60,535,233...60,572,567
JBrowse link
G Tmem67 transmembrane protein 67 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:2929661 PMID:9375913 PMID:17160906 PMID:17377820 PMID:17397051 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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 6:75,136,792...75,368,178
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 chr17:8,845,084...8,910,539
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:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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:16199547 PMID:18414213 PMID:18950740 PMID:19466712 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 SPLANCHNOCYSTICA | 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: Meckel syndrome, type 1
ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:25741868 PMID:28492532 PMID:30193310 PMID:34196655 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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 chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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 PMID:2929661 PMID:9375913 PMID:17160906 PMID:17377820 PMID:17397051 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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 1:81,189,405...81,195,356
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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 chr19:39,883,077...39,904,269
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: Meckel syndrome 12 OMIM
ClinVar
PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar
PMID:25741868 PMID:26123494 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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 OMIM
ClinVar
PMID:25741868 PMID:27894351 PMID:31411728 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539
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 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 1:207,196,454...207,201,754
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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11063677, RGD:11070805 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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: Meckel syndrome, type 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 chr12:31,822,733...32,007,069
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
OMIM
CTD
ClinVar
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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 chr12:31,822,733...32,007,069
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 Disorders OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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 chr10:46,551,532...46,608,769
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 OMIM
ClinVar
PMID:21493627 PMID:25741868 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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 chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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 chr10:46,410,835...46,445,849
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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 chr10:46,638,809...46,912,802
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 chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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:28492532 NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
JBrowse link
G Zfp423 zinc finger protein 423 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 More... NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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 chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
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 chr20:10,636,123...10,651,060
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 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Aptx aprataxin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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 5:57,752,509...57,756,109
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 5:56,890,042...56,895,888
JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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 chr20:12,175,442...12,187,017
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 chr11:37,227,415...37,289,739
JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISS MouseDO NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Ccdc103 coiled-coil domain containing 103 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 chr10:87,846,357...87,849,757
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 5:57,748,999...57,752,918
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 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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 chr10:104,486,748...104,527,243
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 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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 5:58,206,633...58,208,951
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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 2:44,626,369...44,633,914
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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 6:138,794,228...138,839,888
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 chr13:31,046,535...31,116,899
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 chr20:10,687,863...10,694,737
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 5:132,074,395...132,148,462
JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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 5:57,675,462...57,678,611
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 5:58,245,442...58,263,472
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 5:56,823,965...56,841,392
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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 chr20:10,245,462...10,247,526
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
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 9:84,435,552...84,472,635
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 5:56,461,006...56,482,456
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 5:56,881,085...56,889,102
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 chr19:47,624,181...47,652,313
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 7:98,144,763...98,245,837
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 6:87,660,821...87,670,199
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:22387996 More... NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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 8:73,698,103...73,711,292
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 chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
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:103,731,857...103,775,629
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 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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 chr20:8,692,963...8,946,772
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 chr10:50,497,688...50,864,949
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 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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 chr10:99,759,966...99,793,378
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 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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 1:154,848,594...154,862,963
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 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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 6:103,747,753...103,778,878
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS MouseDO NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888
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 6:26,025,005...26,059,414
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
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 5:56,800,980...56,802,777
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
JBrowse link
G FAM187A family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
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 5:56,680,613...56,729,924
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 5:57,910,352...57,919,367
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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 5:59,297,045...59,343,348
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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 5:59,443,076...59,545,080
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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 chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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 chr10:68,222,475...68,229,881
JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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 chr20:30,922,106...30,943,412
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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 5:57,982,470...57,982,790
JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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 4:11,132,385...11,239,113
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 chr19:38,236,464...38,583,264
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 chr20:10,600,420...10,610,703
JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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 5:56,561,154...56,628,025
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 4:11,006,375...11,055,541
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
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 chr20:10,855,181...10,864,362
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
Ensembl chr20:10,871,991...10,872,844
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 chr20:10,939,609...10,940,526
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 6:87,643,217...87,651,894
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 chr20:10,758,955...10,762,067
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 8:108,266,345...108,279,115
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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:17576681 PMID:24033266 PMID:25048963 More... NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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 chr20:12,127,570...12,165,165
JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
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 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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 8:108,574,388...108,593,156
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 5:57,838,935...57,839,985
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074
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 chr19:47,501,302...47,527,684
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 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
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 chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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 8:108,215,814...108,218,996
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 5:56,628,265...56,643,104
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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:23806086 PMID:23849778 PMID:24033266 PMID:24088041 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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 8:20,520,898...20,534,499
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 chr10:85,480,094...85,508,603
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:28,015,347...28,056,110
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 5:58,077,726...58,083,852
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 5:57,960,219...57,965,853
JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
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:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
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 5:58,765,036...58,944,326
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 chr20:11,678,269...11,878,210
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 chr20:12,191,648...12,278,710
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS MouseDO NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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 5:57,142,632...57,168,497
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 5:57,245,166...57,254,146
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 chr20:9,662,899...9,703,727
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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 4:70,203,088...70,206,562
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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 chr20:10,499,363...10,513,640
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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 6:138,437,991...138,679,936
JBrowse link
G Rassf1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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 chr20:31,019,829...31,073,147
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 5:57,834,629...57,843,086
JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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 chr11:37,122,565...37,144,799
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 6:87,636,804...87,637,103
JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpl36al1 ribosomal protein L36A like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,654,808...87,656,202
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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 chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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 chr20:30,764,409...30,780,574
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 9:14,840,115...14,860,062
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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 8:108,271,666...108,282,919
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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 5:57,740,218...57,741,838
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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 chr20:9,378,836...9,433,892
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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 5:55,856,246...55,875,300
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 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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 7:67,361,477...67,421,368
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 5:57,901,682...57,903,894
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 5:57,065,747...57,071,738
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 5:57,200,000...57,204,070
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 chr20:12,074,047...12,083,301
JBrowse link
G Spef2 sperm flagellar 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:31942643 NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
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 5:55,981,624...56,064,795
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 5:56,666,058...56,678,923
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
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 chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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 5:57,787,943...57,817,900
JBrowse link
G Tmem115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
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 5:55,612,568...55,615,828
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 5:57,919,804...57,946,772
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 chr20:9,254,109...9,274,363
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 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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
Ensembl chr 5:59,362,240...59,365,269
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 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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 5:55,387,632...55,399,937
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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 5:59,548,869...59,572,526
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 chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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 2:116,653,595...116,664,158
JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISS MouseDO NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761
JBrowse link
G Tusc2 tumor suppressor 2, mitochondrial calcium regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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 chr20:9,292,139...9,329,224
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 chr20:10,983,742...11,005,447
JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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 chr20:9,025,724...9,087,146
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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:28492532 NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
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 chr20:12,165,237...12,174,713
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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 5:58,993,290...59,173,300
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 8:108,220,386...108,224,744
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
JBrowse link
primary ciliary dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnai1 dynein, axonemal, intermediate chain 1 ISO
ISS
ClinVar Annotator: match by term: DNAI1-related condition
OMIM:244400
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11231901 PMID:16858015 PMID:17576681 PMID:19300481 More... NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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 6:87,660,821...87,670,199
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 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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 chr20:30,764,409...30,780,574
JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 ClinVar PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Rsph9 radial spoke head component 9 ISO CTD Direct Evidence: marker/mechanism
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 9:14,840,115...14,860,062
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13
OMIM
CTD
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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 chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 More... NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 ClinVar PMID:21131972 PMID:23255504 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131974 PMID:22499950 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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:28492532 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:21496787 PMID:24033266 PMID:25741868 More... NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
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 6:104,098,818...104,199,323
Ensembl chr 6:104,099,162...104,194,103
JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:103,787,873...103,829,178
JBrowse link
G Pnma1 PNMA family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567
JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,931,367...103,963,113
Ensembl chr 6:103,931,409...103,963,111
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 6:104,217,230...104,240,018
JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:103,964,060...103,990,225
JBrowse link
primary ciliary dyskinesia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17
OMIM
CTD
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G FAM187A family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar PMID:28492532 NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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 chr14:1,184,677...1,216,392 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More... NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 PMID:28492532 PMID:29363216 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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
OMIM:614935
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 More... NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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: Ciliary dyskinesia, primary, 2 | 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:10745040 PMID:16199547 PMID:22387996 PMID:24033266 PMID:25741868 More... NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 20
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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
OMIM:615294
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 21
OMIM
MouseDO
CTD
ClinVar
PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
primary ciliary dyskinesia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd10 zinc finger, MYND-type containing 10 ISO
ISS
OMIM:615444
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition
OMIM
MouseDO
CTD
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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 susceptibility ISO
ISS
ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25
OMIM:615482
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 26
OMIM
CTD
ClinVar
PMID:24094744 PMID:25741868 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 27
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23991085 PMID:24033266 More... NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24055112 More... NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24747639 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 More... NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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 chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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 chr10:104,486,748...104,527,243
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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 chr10:68,222,475...68,229,881
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 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 More... NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 ClinVar NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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 1:46,887,017...46,893,881
JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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 1:47,281,844...47,364,259
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 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26073779 More... NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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 1:46,620,498...46,656,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
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 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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 1:46,830,710...46,884,295
JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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 chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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 chr19:50,680,729...50,749,610
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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 chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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 chr19:51,166,034...51,182,677
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 chr19:50,539,352...50,544,623
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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 chr19:51,474,878...51,495,638
JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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 chr19:50,628,552...50,662,246
JBrowse link
G Gas8 growth arrest specific 8 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
OMIM:616726
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 More... NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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 chr19:50,484,890...50,486,169
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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 chr19:50,669,967...50,673,366
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 chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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 chr19:50,516,771...50,523,486
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 chr19:51,269,078...51,273,510
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 chr19:51,246,514...51,258,894
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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 chr19:51,277,000...51,290,634
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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 8:18,965,271...18,988,325
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 chr19:51,290,777...51,304,049
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr19:50,282,337...50,324,010 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 chr19:50,334,682...50,390,591
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 34
OMIM
CTD
ClinVar
PMID:25741868 PMID:27486783 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 35
OMIM
MouseDO
CTD
ClinVar
PMID:25741868 PMID:27486780 NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked
OMIM
CTD
ClinVar
PMID:25741868 PMID:28041644 PMID:28492532 PMID:32170493 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
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: Ciliary dyskinesia, primary, 37 OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:24360805 PMID:25741868 PMID:25927852 More... NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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: 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 8:5,180,675...5,198,807
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388400 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 | 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 chr10:50,497,688...50,864,949
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 chr10:68,222,475...68,229,881
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 OMIM
ClinVar
PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 More... NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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 chr10:101,566,304...101,570,237
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 NCBI chr15:10,387,063...10,564,177
Ensembl chr15:10,381,140...10,559,722
JBrowse link
primary ciliary dyskinesia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 OMIM
ClinVar
PMID:1978331 PMID:25741868 NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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:25741868 PMID:28492532 PMID:28543983 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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 chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794
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: 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 5:165,979,805...166,046,071
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 5
OMIM
CTD
ClinVar
PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 More... NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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 OMIM
ClinVar
PMID:34476482 PMID:35543642 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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: Ciliary dyskinesia, primary, 51 OMIM
ClinVar
PMID:25741868 PMID:33389130 NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
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:28991257 PMID:36074124 NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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:36727596 NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
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 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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 chr17:43,809,638...44,049,148
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
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 chr17:45,117,812...45,180,027
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 8:20,921,244...20,971,069
JBrowse link
G Nme8 NME/NM23 family member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 6
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 More... NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
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 chr17:45,234,097...45,330,736
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: 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 6:138,794,228...138,839,888
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
primary ciliary dyskinesia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 chr10:99,759,966...99,793,378
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stromme syndrome
OMIM
CTD
ClinVar
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      ciliopathy 1020
        Alstrom syndrome 14
        Bardet-Biedl syndrome + 233
        Caroli disease + 4
        Ciliary Motility Disorders + 369
        Joubert syndrome + 414
        Meckel syndrome + 52
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            ciliopathy 1020
              Alstrom syndrome 14
              Bardet-Biedl syndrome + 233
              Caroli disease + 4
              Ciliary Motility Disorders + 369
              Joubert syndrome + 414
              Meckel syndrome + 52
paths to the root