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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 chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,524,476...94,626,201
Ensembl chr10:94,524,516...94,626,715 		JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 4:12,153,142...12,172,047
Ensembl chr 4:12,153,409...12,172,015 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:26275418 PMID:28492532 NCBI chr 5:122,678,328...122,752,614
Ensembl chr 5:122,688,267...122,752,581 		JBrowse link
G Kif7 kinesin family member 7 IAGP MouseDO NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Nek4 NIMA (never in mitosis gene a)-related expressed kinase 4 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar NCBI chr14:30,673,334...30,710,778
Ensembl chr14:30,673,334...30,710,778 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 IAGP MouseDO NCBI chr 3:41,581,140...41,696,968
Ensembl chr 3:41,581,155...41,696,949 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 IAGP MouseDO NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:25869670 PMID:28492532 NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 PMID:28492532 PMID:28771248 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Wdr11 WD repeat domain 11 IAGP MouseDO NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462 		JBrowse link
G Wdr19 WD repeat domain 19 IAGP DNA:missense mutation:cds:p.L750P (mouse) MouseDO
RGD		 PMID:22228095 RGD:11552606 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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 susceptibility ISO
IAGP
IMP		 ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
DNA:frameshift mutations, nonsense mutations
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple		 OMIM
ClinVar
RGD
MouseDO
CTD		 PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:1601169, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,428,487...85,445,459
Ensembl chr 6:85,428,496...85,445,457 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,488,103...85,490,571
Ensembl chr 6:85,488,103...85,490,571 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,446,556...85,479,976
Ensembl chr 6:85,446,556...85,479,976 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,423,767...85,428,969
Ensembl chr 6:85,423,792...85,428,952 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 (class I) ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,311,944...85,351,663
Ensembl chr 6:85,311,944...85,351,616 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,190,031...85,310,488
Ensembl chr 6:85,190,031...85,310,404 		JBrowse link
G Smyd5 SET and MYND domain containing 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,408,958...85,423,411
Ensembl chr 6:85,408,971...85,423,417 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,110,662...85,114,746
Ensembl chr 6:85,107,158...85,114,748 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Alstrom syndrome
ClinVar Annotator: match by term: Alstrom's syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30245509 More... NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		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, sub-family B member 11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		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 chr 8:95,701,321...95,740,836
Ensembl chr 8:95,701,379...95,740,845 		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 chr 8:95,743,742...95,771,878
Ensembl chr 8:95,744,320...95,771,878 		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 chr 8:95,648,439...95,669,921
Ensembl chr 8:95,650,322...95,669,908 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:59,198,855...59,223,483
Ensembl chr 9:59,198,841...59,231,335 		JBrowse link
G AI837181 expressed sequence AI837181 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,475,172...5,477,345
Ensembl chr19:5,475,172...5,477,341 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 PMID:28492532 NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		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 chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		JBrowse link
G Ap5b1 adaptor-related protein complex 5, beta 1 subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,610,278...5,621,290
Ensembl chr19:5,618,053...5,621,289 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,697,636...57,744,130
Ensembl chr 9:57,697,636...57,744,076 		JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578 		JBrowse link
G Arl2bp ADP-ribosylation factor-like 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 chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053 		JBrowse link
G Arl6 ADP-ribosylation factor-like 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 chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		JBrowse link
G Arl6ip6 ADP-ribosylation factor-like 6 interacting protein 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 2:53,082,096...53,109,233
Ensembl chr 2:53,081,738...53,109,232 		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 4:65,299,040...66,322,774
Ensembl chr 4:65,299,040...66,322,848 		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 chr19:6,291,508...6,312,332
Ensembl chr19:6,291,698...6,312,365 		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 chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		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 chr19:5,414,661...5,416,904
Ensembl chr19:5,414,666...5,417,196 		JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506 		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 chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		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 chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		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 2:69,477,193...69,497,915
Ensembl chr 2:69,477,515...69,497,915 		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 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		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 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		JBrowse link
G Brms1 breast cancer metastasis-suppressor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,091,391...5,099,940
Ensembl chr19:5,091,382...5,099,945 		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 chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927 		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 chr19:5,385,643...5,394,309
Ensembl chr19:5,385,769...5,394,308 		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 chr 8:95,629,497...95,644,726
Ensembl chr 8:95,629,497...95,644,726 		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 chr 8:96,260,684...96,285,516
Ensembl chr 8:96,260,713...96,285,518 		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 4:129,513,067...129,517,820
Ensembl chr 4:129,513,067...129,517,740 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,935,956...58,026,111
Ensembl chr 9:57,935,960...58,026,106 		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 chr19:5,503,191...5,507,591
Ensembl chr19:5,503,208...5,507,922 		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 chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664 		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 chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Cd248 CD248 antigen, endosialin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,118,106...5,120,668
Ensembl chr19:5,118,106...5,120,710 		JBrowse link
G Cd276 CD276 antigen ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,431,581...58,463,437
Ensembl chr 9:58,431,581...58,462,720 		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 chr19:6,356,465...6,375,682
Ensembl chr19:6,356,486...6,375,682 		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 chr19:5,967,584...5,974,844
Ensembl chr19:5,965,664...5,974,844 		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 chr19:6,135,127...6,141,803
Ensembl chr19:6,135,013...6,141,807 		JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr16:31,918,618...31,926,875
Ensembl chr16:31,918,618...31,926,887 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 chr 8:96,146,867...96,161,716
Ensembl chr 8:96,146,877...96,161,497 		JBrowse link
G Cfl1 cofilin 1, non-muscle ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229 		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 chr 8:95,546,446...95,565,454
Ensembl chr 8:95,546,432...95,564,986 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,657,904...57,672,397
Ensembl chr 9:57,657,907...57,673,143 		JBrowse link
G Cngb1 cyclic nucleotide gated channel beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		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 chr19:5,142,896...5,148,549
Ensembl chr19:5,142,896...5,148,549 		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 chr 8:96,445,559...96,534,741
Ensembl chr 8:96,446,079...96,534,092 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		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 chr 8:95,565,041...95,581,523
Ensembl chr 8:95,564,949...95,581,523 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,507,275...57,513,564
Ensembl chr 9:57,507,275...57,513,564 		JBrowse link
G Cpne2 copine II ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,259,299...95,297,157
Ensembl chr 8:95,259,618...95,297,159 		JBrowse link
G Csk c-src tyrosine kinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,533,929...57,560,758
Ensembl chr 9:57,533,929...57,560,914 		JBrowse link
G Csnk2a2 casein kinase 2, alpha prime polypeptide ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,172,724...96,215,505
Ensembl chr 8:96,172,724...96,216,667 		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 chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602 		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 chr19:5,515,071...5,518,558
Ensembl chr19:5,515,071...5,518,535 		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 chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		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 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		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 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		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 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986 		JBrowse link
G Dhrs9 dehydrogenase/reductase 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:69,210,806...69,233,430
Ensembl chr 2:69,210,789...69,234,877 		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 chr 8:95,590,456...95,602,940
Ensembl chr 8:95,590,456...95,602,958 		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 chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		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 chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315 		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 chr19:5,472,832...5,475,007
Ensembl chr19:5,472,833...5,475,007 		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 chr 8:95,781,731...95,804,769
Ensembl chr 8:95,781,731...95,804,769 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,615,823...57,659,782
Ensembl chr 9:57,615,823...57,659,782 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like 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 chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,955,825...22,237,086
Ensembl chr11:21,955,828...22,292,292 		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 chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345 		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 chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126 		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 chr19:5,416,841...5,421,546
Ensembl chr19:5,416,769...5,421,554 		JBrowse link
G Eml5 echinoderm microtubule associated protein like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr12:98,752,863...98,867,770
Ensembl chr12:98,753,064...98,867,743 		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 chr19:5,778,115...5,779,694
Ensembl chr19:5,778,115...5,779,681 		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 chr19:6,107,977...6,109,554
Ensembl chr19:6,107,874...6,109,554 		JBrowse link
G Fibp fibroblast growth factor (acidic) 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 chr19:5,510,626...5,515,080
Ensembl chr19:5,510,643...5,515,079 		JBrowse link
G Fosl1 fos-like antigen 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		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 chr19:5,901,002...5,925,297
Ensembl chr19:5,899,730...5,925,302 		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 chr19:5,348,359...5,358,767
Ensembl chr19:5,348,359...5,358,766 		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 chr 8:96,360,187...96,371,687
Ensembl chr 8:96,360,081...96,371,688 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Gnao1 guanine nucleotide binding protein, alpha O ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016 		JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,590,761...96,615,029
Ensembl chr 8:96,590,762...96,615,175 		JBrowse link
G Gpha2 glycoprotein hormone alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,276,431...6,277,798
Ensembl chr19:6,276,410...6,277,798 		JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458 		JBrowse link
G Herpud1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,113,057...95,121,999
Ensembl chr 8:95,113,066...95,122,005 		JBrowse link
G Htr2b 5-hydroxytryptamine (serotonin) receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692 		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 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 chr15:78,043,660...78,058,281
Ensembl chr15:78,043,663...78,058,307 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,395,886...58,407,063
Ensembl chr 9:58,395,886...58,407,063 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,063,547...58,066,563
Ensembl chr 9:58,063,551...58,111,589 		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 9:58,103,580...58,113,563
Ensembl chr 9:58,103,580...58,111,602 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kat5 K(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 chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265 		JBrowse link
G Katnb1 katanin p80 (WD40-containing) subunit B 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777 		JBrowse link
G Kcnk7 potassium 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 chr19:5,754,471...5,757,956
Ensembl chr19:5,754,395...5,757,137 		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 chr 8:95,826,456...95,929,454
Ensembl chr 8:95,826,456...95,929,440 		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 chr19:5,157,774...5,168,326
Ensembl chr19:5,157,774...5,168,588 		JBrowse link
G Klhl41 kelch-like 41 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:69,500,464...69,514,583
Ensembl chr 2:69,500,464...69,514,574 		JBrowse link
G Lman1l lectin, mannose-binding 1 like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,514,080...57,528,057
Ensembl chr 9:57,514,368...57,528,057 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		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 chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762 		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 chr19:6,234,358...6,274,349
Ensembl chr19:6,234,418...6,274,255 		JBrowse link
G Malat1 metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706 		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 chr19:5,738,764...5,752,893
Ensembl chr19:5,738,770...5,752,893 		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 chr19:6,391,023...6,405,649
Ensembl chr19:6,391,165...6,405,645 		JBrowse link
G Mdh1 malate dehydrogenase 1, NAD (soluble) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,506,692...21,521,934
Ensembl chr11:21,506,692...21,522,367 		JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921 		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 chr 8:95,050,939...95,051,009
Ensembl chr 8:95,050,939...95,051,009 		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 chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962 		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 chr19:6,314,673...6,314,758
Ensembl chr19:6,314,673...6,314,758 		JBrowse link
G Mkks McKusick-Kaufman syndrome 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 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		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 chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		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 chr 8:96,078,924...96,100,921
Ensembl chr 8:96,078,896...96,101,708 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,448,744...57,460,095
Ensembl chr 9:57,451,539...57,460,046 		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 chr19:5,012,180...5,017,023
Ensembl chr19:5,012,175...5,017,027 		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 chr19:6,103,660...6,107,785
Ensembl chr19:6,103,652...6,107,815 		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 chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955 		JBrowse link
G Mt2 metallothionein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		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 chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774 		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 chr 8:94,863,832...94,865,659
Ensembl chr 8:94,863,825...94,865,659 		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 chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		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 chr19:6,155,811...6,166,019
Ensembl chr19:6,155,812...6,165,822 		JBrowse link
G Ndrg4 N-myc downstream regulated gene 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747 		JBrowse link
G Neat1 nuclear paraspeckle assembly transcript 1 (non-protein coding) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898 		JBrowse link
G Neo1 neogenin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,781,962...58,943,926
Ensembl chr 9:58,781,970...58,943,724 		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 chr 8:95,160,963...95,253,900
Ensembl chr 8:95,160,984...95,253,900 		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 chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO RGD PMID:24746959 RGD:11352646 NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15776426 PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,489,504...58,560,162
Ensembl chr 9:58,489,523...58,565,238 		JBrowse link
G Nt5c3 5'-nucleotidase, cytosolic III ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 6:56,859,385...56,900,993
Ensembl chr 6:56,859,385...56,900,917 		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 chr 8:94,746,031...94,763,667
Ensembl chr 8:94,742,124...94,763,659 		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 chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855 		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 chr 8:94,763,782...94,794,550
Ensembl chr 8:94,763,826...94,794,549 		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 chr10:111,000,663...111,133,110
Ensembl chr10:111,000,613...111,133,110 		JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897 		JBrowse link
G Ovol1 ovo like zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,599,165...5,610,603
Ensembl chr19:5,599,164...5,610,674 		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 chr19:5,183,714...5,323,138
Ensembl chr19:5,183,186...5,323,147 		JBrowse link
G Pcnx3 pecanex homolog 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,714,663...5,739,036
Ensembl chr19:5,714,663...5,738,936 		JBrowse link
G Peli1 pellino 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,041,283...21,100,327
Ensembl chr11:21,041,291...21,100,323 		JBrowse link
G Peli3 pellino 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:4,979,745...4,993,155
Ensembl chr19:4,979,745...4,993,155 		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 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pllp plasma membrane proteolipid ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,401,523...95,422,870
Ensembl chr 8:95,401,522...95,422,906 		JBrowse link
G Pml promyelocytic leukemia ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Pola2 polymerase (DNA directed), alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,990,574...6,014,266
Ensembl chr19:5,990,570...6,014,230 		JBrowse link
G Polr2c polymerase (RNA) II (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,584,078...95,590,870
Ensembl chr 8:95,584,078...95,600,163 		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 chr19:6,277,795...6,286,294
Ensembl chr19:6,277,795...6,285,902 		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 chr 8:96,285,694...96,302,965
Ensembl chr 8:96,285,697...96,302,968 		JBrowse link
G Psmd1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 1:85,992,341...86,067,017
Ensembl chr 1:85,992,109...86,066,873 		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 chr 8:95,301,568...95,328,483
Ensembl chr 8:95,300,766...95,328,625 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr12:98,643,000...98,703,664
Ensembl chr12:98,643,000...98,703,664 		JBrowse link
G Pygm muscle glycogen phosphorylase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489 		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 chr19:5,149,235...5,157,024
Ensembl chr19:5,149,233...5,157,100 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,560,139...58,729,684
Ensembl chr 9:58,560,133...58,651,247 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		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 chr19:5,100,035...5,107,100
Ensembl chr19:5,100,509...5,107,099 		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 chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		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 chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047 		JBrowse link
G Rp9 retinitis pigmentosa 9 (human) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 9:22,359,607...22,379,652
Ensembl chr 9:22,322,343...22,381,039 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 chr 8:95,328,569...95,386,905
Ensembl chr 8:95,328,565...95,386,903 		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 chr19:6,166,025...6,168,689
Ensembl chr19:6,166,030...6,168,680 		JBrowse link
G Sart1 squamous cell carcinoma antigen recognized by T cells 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,427,551...5,438,731
Ensembl chr19:5,427,551...5,438,731 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,468,227...57,496,081
Ensembl chr 9:57,468,226...57,496,078 		JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:20835237 PMID:21866095 PMID:22190896 PMID:23559409 More... NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003 		JBrowse link
G Sema7a sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,846,879...57,870,148
Ensembl chr 9:57,847,395...57,870,148 		JBrowse link
G Setd6 SET domain containing 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,442,211...96,448,135
Ensembl chr 8:96,442,509...96,445,638 		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 chr19:6,413,952...6,428,060
Ensembl chr19:6,413,720...6,428,060 		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 chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483 		JBrowse link
G Sipa1 signal-induced proliferation associated gene 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735 		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 chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842 		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 chr19:5,927,828...5,935,796
Ensembl chr19:5,927,836...5,935,906 		JBrowse link
G Slc29a2 solute carrier family 29 (nucleoside transporters), member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,069,085...5,082,000
Ensembl chr19:5,073,888...5,082,000 		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 chr 8:96,562,548...96,580,205
Ensembl chr 8:96,562,548...96,580,167 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:136,733,138...136,923,273
Ensembl chr 2:136,733,138...136,913,870 		JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		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 chr19:6,169,429...6,182,446
Ensembl chr19:6,169,429...6,178,334 		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 chr19:5,545,302...5,560,741
Ensembl chr19:5,542,263...5,560,566 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		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 chr 8:96,038,148...96,053,239
Ensembl chr 8:96,037,194...96,052,951 		JBrowse link
G Stoml1 stomatin-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,160,443...58,169,807
Ensembl chr 9:58,160,447...58,169,803 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279 		JBrowse link
G Syvn1 synovial apoptosis inhibitor 1, synoviolin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,096,586...6,103,748
Ensembl chr19:6,096,606...6,103,742 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:58,266,999...58,277,762
Ensembl chr 9:58,266,987...58,277,738 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IAGP MouseDO NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		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 chr19:5,941,166...5,944,156
Ensembl chr19:5,941,166...5,944,177 		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 chr19:6,112,851...6,117,880
Ensembl chr19:6,112,851...6,118,403 		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 chr19:5,120,859...5,135,519
Ensembl chr19:5,120,887...5,135,559 		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 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 4:126,156,198...126,169,676
Ensembl chr 4:126,156,118...126,169,676 		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 4:65,523,223...65,534,477
Ensembl chr 4:65,523,223...65,534,475 		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 chr19:5,440,075...5,452,534
Ensembl chr19:5,440,077...5,452,554 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:87,649,022...87,676,754
Ensembl chr11:87,651,367...87,676,754 		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 chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Ubl7 ubiquitin-like 7 (bone marrow stromal cell-derived) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,818,280...57,837,624
Ensembl chr 9:57,818,262...57,837,251 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,271,126...21,321,267
Ensembl chr11:21,271,138...21,321,201 		JBrowse link
G Ulk3 unc-51-like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 9:57,496,423...57,503,516
Ensembl chr 9:57,496,735...57,503,516 		JBrowse link
G Usb1 U6 snRNA biogenesis 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,058,006...96,074,137
Ensembl chr 8:96,058,912...96,074,135 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vps51 VPS51 GARP complex subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,117,872...6,127,217
Ensembl chr19:6,117,872...6,127,261 		JBrowse link
G Vps54 VPS54 GARP complex subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136 		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 chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Yif1a Yip1 interacting factor homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:5,138,566...5,142,907
Ensembl chr19:5,138,566...5,142,909 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr12:98,708,276...98,754,033
Ensembl chr12:98,713,223...98,754,012 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		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 chr 8:96,052,759...96,058,439
Ensembl chr 8:96,049,639...96,058,578 		JBrowse link
G Zfpl1 zinc finger like protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr19:6,130,792...6,134,961
Ensembl chr19:6,130,792...6,134,986 		JBrowse link
G Znhit2 zinc finger, HIT 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 chr19:6,111,237...6,112,498
Ensembl chr19:6,111,222...6,112,502 		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 chr19:5,780,334...5,781,760
Ensembl chr19:5,780,331...5,781,760
Ensembl chr19:5,780,331...5,781,760 		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 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 chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr19:53,918,087...53,933,058
Ensembl chr19:53,918,292...53,933,058 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO
IAGP		 ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM:209900		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 More... NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		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 chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		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 2:69,477,193...69,497,915
Ensembl chr 2:69,477,515...69,497,915 		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 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		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 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		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 4:129,513,067...129,517,820
Ensembl chr 4:129,513,067...129,517,740 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762 		JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		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 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403 		JBrowse link
G Stx3 syntaxin 3 IEP RGD PMID:26216965 RGD:11532386 NCBI chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767 		JBrowse link
G Stxbp1 syntaxin binding protein 1 IEP RGD PMID:26216965 RGD:11532386 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		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 chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain 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 chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:615987		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 More... NCBI chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 chr10:111,000,663...111,133,110
Ensembl chr10:111,000,613...111,133,110 		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 4:65,299,040...66,322,774
Ensembl chr 4:65,299,040...66,322,848 		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 4:65,523,223...65,534,477
Ensembl chr 4:65,523,223...65,534,475 		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 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		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 chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		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 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		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 chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
Bardet-Biedl syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:28492532 NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		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 2:75,816,152...76,169,501
Ensembl chr 2:75,819,485...76,169,118 		JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 16
CTD Direct Evidence: marker/mechanism
OMIM:615993		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 More... NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003 		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 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:615994		 OMIM
ClinVar
CTD
MouseDO		 PMID:22510444 PMID:23692385 PMID:25741868 PMID:25741916 PMID:28492532 NCBI chr 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762 		JBrowse link
G Stx3 syntaxin 3 IEP protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767 		JBrowse link
G Stxbp1 syntaxin binding protein 1 IEP protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		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
IAGP		 ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
CTD Direct Evidence: marker/mechanism
OMIM:615995		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:25741913 More... NCBI chr19:53,918,087...53,933,058
Ensembl chr19:53,918,292...53,933,058 		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 chr15:78,043,660...78,058,281
Ensembl chr15:78,043,663...78,058,307 		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
IAGP		 ClinVar Annotator: match by term: BBS2-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
CTD Direct Evidence: marker/mechanism
OMIM:615981		 OMIM
ClinVar
CTD
MouseDO		 PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... NCBI chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		JBrowse link
G Mkks McKusick-Kaufman syndrome 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 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		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 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 5:31,409,050...31,410,541
Ensembl chr 5:31,409,035...31,410,546 		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 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425 		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 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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 4:94,491,503...94,581,470
Ensembl chr 4:94,502,728...94,581,466 		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 6 ISO
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM:600151		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15258860 PMID:15314642 PMID:16199547 PMID:17160889 More... NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		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 chr16:59,473,424...60,431,196
Ensembl chr16:59,473,846...60,425,894 		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
IAGP		 ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4
CTD Direct Evidence: marker/mechanism
OMIM:615982		 OMIM
ClinVar
CTD
MouseDO		 PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		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
IAGP		 ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
CTD Direct Evidence: marker/mechanism
OMIM:615983		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 More... NCBI chr 2:69,477,193...69,497,915
Ensembl chr 2:69,477,515...69,497,915 		JBrowse link
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks McKusick-Kaufman syndrome ISO
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 6
CTD Direct Evidence: marker/mechanism
OMIM:605231		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 More... NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		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 chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		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
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition
CTD Direct Evidence: marker/mechanism
OMIM:615985		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... NCBI chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		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 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741913 PMID:31595528 PMID:32617964 NCBI chr 6:38,358,400...38,404,582
Ensembl chr 6:38,358,404...38,404,582 		JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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 Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		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 chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		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 chr17:30,845,909...31,094,736
Ensembl chr17:30,843,328...31,096,339 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215 PMID:19668216 NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		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:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407 PMID:17558409 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME ClinVar PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More... NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 polycystic kidney and hepatic disease 1 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 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288 		JBrowse link
Joubert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17377524 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Arl13b ADP-ribosylation factor-like 13B ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18674751 PMID:23150559 PMID:23153492 PMID:25741868 PMID:26092869 More... NCBI chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403 		JBrowse link
G B9d1 B9 protein domain 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:25741913 More... NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988 PMID:26092869 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		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 chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 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 chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		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 chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249 		JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar NCBI chr 3:14,595,512...14,637,718
Ensembl chr 3:14,598,848...14,637,718 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) 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 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) 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 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		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:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:21462283 PMID:21565611 PMID:25118024 PMID:25741868 PMID:26092869 More... NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677 		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 chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		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 chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 More... NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		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 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		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 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 IAGP MouseDO NCBI chr 9:91,240,111...91,250,136
Ensembl chr 9:91,240,111...91,247,863 		JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700017N19Rik RIKEN cDNA 1700017N19 gene ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr10:100,426,346...100,454,257
Ensembl chr10:100,426,346...100,454,263 		JBrowse link
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Abca2 ATP-binding cassette, sub-family 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 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		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 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		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 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Ajm1 apical junction component 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 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		JBrowse link
G Akap1 A kinase anchor protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,721,618...88,755,426
Ensembl chr11:88,721,618...88,755,412 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase family 3, subfamily A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,114,240...61,158,267
Ensembl chr11:61,114,243...61,158,290 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338 		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 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		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 chr11:85,082,134...85,125,946
Ensembl chr11:85,078,088...85,125,956 		JBrowse link
G Arl13b ADP-ribosylation factor-like 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 chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403 		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 1:86,082,436...86,207,491
Ensembl chr 1:86,082,502...86,206,006 		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 2:24,815,364...24,825,347
Ensembl chr 2:24,815,364...24,825,264 		JBrowse link
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,767,117...124,801,519
Ensembl chr 5:124,766,641...124,801,519 		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 chr11:60,291,450...60,309,427
Ensembl chr11:60,291,452...60,309,283 		JBrowse link
G B9d1 B9 protein domain 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 chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 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 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		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 chr11:85,243,611...85,716,884
Ensembl chr11:85,243,993...85,716,884 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		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 chr 5:43,976,235...44,000,810
Ensembl chr 5:43,976,227...44,001,328 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 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 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit 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 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164 		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 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:84,848,580...84,856,880
Ensembl chr11:84,848,612...84,856,870 		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 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr15:79,543,437...79,551,861
Ensembl chr15:79,543,400...79,551,861 		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 chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		JBrowse link
G Cd38 CD38 antigen ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,026,153...44,069,714
Ensembl chr 5:44,025,895...44,069,717 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 6:30,653,456...30,710,511
Ensembl chr 6:30,653,456...30,693,748 		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 chr11:85,031,023...85,072,042
Ensembl chr11:85,061,230...85,071,971 		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 2:25,104,382...25,112,293
Ensembl chr 2:25,108,757...25,112,292 		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 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,585,178...86,648,637
Ensembl chr11:86,585,177...86,648,391 		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 chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,864,761...88,882,439
Ensembl chr11:88,861,078...88,882,439 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,708,621...59,739,080
Ensembl chr11:59,708,621...59,730,664 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 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 chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		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 chr19:10,502,594...10,525,099
Ensembl chr19:10,502,630...10,525,017 		JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,989,972...88,084,966
Ensembl chr11:87,988,884...88,084,966 		JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr19:10,554,521...10,574,196
Ensembl chr19:10,554,536...10,573,325 		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 2:25,128,831...25,129,876
Ensembl chr 2:25,128,830...25,132,464 		JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,659,675...86,698,695
Ensembl chr11:86,659,672...86,698,572 		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 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		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 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dph7 diphthamine biosynethesis 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 2:24,852,183...24,862,198
Ensembl chr 2:24,852,412...24,862,175 		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 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,243,063...60,285,168
Ensembl chr11:60,244,155...60,285,167 		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 chr11:60,345,442...60,359,589
Ensembl chr11:60,345,417...60,359,580 		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 chr11:87,870,351...87,892,746
Ensembl chr11:87,870,351...87,878,359 		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 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		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:165,306,003...165,368,712
Ensembl chr  X:165,306,003...165,368,716 		JBrowse link
G Egfl7 EGF-like domain 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 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		JBrowse link
G Ehmt1 euchromatic histone 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 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		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 chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		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 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		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 2:24,969,308...24,975,731
Ensembl chr 2:24,970,316...24,975,728 		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 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513 		JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362 		JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr 8:125,617,038...125,624,444
Ensembl chr 8:125,619,847...125,624,444 		JBrowse link
G Fam149b family with sequence similarity 149, member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:30905400 NCBI chr14:20,398,221...20,433,559
Ensembl chr14:20,398,230...20,433,559 		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 chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777 		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 chr 5:43,901,958...43,939,529
Ensembl chr 5:43,901,957...43,978,980 		JBrowse link
G Fbxw10 F-box and WD-40 domain protein 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:62,737,893...62,768,290
Ensembl chr11:62,737,895...62,768,291 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 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 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		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 chr 5:44,136,200...44,139,173
Ensembl chr 5:44,136,200...44,139,121 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842 		JBrowse link
G Flii flightless I actin binding protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,604,969...60,618,089
Ensembl chr11:60,604,949...60,618,089 		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 chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		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 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,924,620...86,964,963
Ensembl chr11:86,924,693...86,964,888 		JBrowse link
G Gid4 GID complex subunit 4, VID24 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,307,971...60,336,103
Ensembl chr11:60,307,971...60,341,753 		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 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gm525 predicted gene 525 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,957,346...88,983,890
Ensembl chr11:88,964,667...88,983,866 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) 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 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 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 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Gtf2h3 general transcription factor IIH, polypeptide 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:124,717,211...124,735,743
Ensembl chr 5:124,717,203...124,735,743 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:83,644,463...83,674,580
Ensembl chr11:83,644,522...83,674,580 		JBrowse link
G Hsf5 heat shock transcription factor family member 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,507,225...87,550,715
Ensembl chr11:87,507,990...87,550,368 		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 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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-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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Irx3 Iroquois related homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:92,525,139...92,528,282
Ensembl chr 8:92,525,153...92,528,695 		JBrowse link
G Irx5 Iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914 		JBrowse link
G Irx6 Iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,400,917...93,407,584
Ensembl chr 8:93,400,916...93,407,584 		JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26714646 NCBI chr 7:125,307,027...125,473,967
Ensembl chr 7:125,307,060...125,473,965 		JBrowse link
G Kcnt1 potassium 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 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		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 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Kitl kit ligand ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		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 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn11 lipocalin 11 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 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		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 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 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 2:25,534,156...25,538,813 JBrowse link
G Lcn3 lipocalin 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 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		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 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		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 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		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 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 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 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012 		JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,697,254...87,716,750
Ensembl chr11:87,697,254...87,719,115 		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 2:25,179,923...25,181,205
Ensembl chr 2:25,179,927...25,181,192 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 3:30,678,416...30,701,967
Ensembl chr 3:30,678,416...30,702,018 		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 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		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 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,839,040...59,854,132
Ensembl chr11:59,839,032...59,853,031 		JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726 		JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 5:139,692,447...139,722,088
Ensembl chr 5:139,692,451...139,722,091 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,619,224...60,623,777
Ensembl chr11:60,619,224...60,623,777 		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 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		JBrowse link
G Mir21a microRNA 21a ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		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: 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 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 chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,552,973...59,671,686
Ensembl chr11:59,552,131...59,671,686 		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 2:24,862,482...24,865,110
Ensembl chr 2:24,864,129...24,865,110 		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 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,084,932...88,102,333
Ensembl chr11:88,095,214...88,102,333 		JBrowse link
G Msi2 musashi RNA-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,230,208...88,609,197
Ensembl chr11:88,230,208...88,609,339 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,482,769...87,507,128
Ensembl chr11:87,482,988...87,507,128 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing 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 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		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 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034 		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 2:25,089,724...25,101,501
Ensembl chr 2:25,089,724...25,101,501 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Notch1 notch 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 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		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 2:24,975,679...24,985,217
Ensembl chr 2:24,975,679...24,985,161 		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 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		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 2:25,070,770...25,073,351
Ensembl chr 2:25,070,770...25,073,351 		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 2:24,944,370...24,952,893
Ensembl chr 2:24,944,367...24,952,893 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,730,233...59,767,359
Ensembl chr11:59,730,273...59,771,794 		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 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		JBrowse link
G Or4d1 olfactory receptor family 4 subfamily D member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,804,746...87,805,829
Ensembl chr11:87,804,094...87,811,793 		JBrowse link
G Or4d2 olfactory receptor family 4 subfamily D member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,783,813...87,784,748
Ensembl chr11:87,783,444...87,788,213 		JBrowse link
G 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 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		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 4:11,958,183...11,966,450
Ensembl chr 4:11,958,184...11,966,452 		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 chr 8:111,821,232...111,866,402
Ensembl chr 8:111,821,262...111,863,706 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315 		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 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		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 chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,674,719...59,678,483
Ensembl chr11:59,674,723...59,678,471 		JBrowse link
G Pmpca peptidase (mitochondrial processing) 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 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		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 2:24,865,235...24,944,084
Ensembl chr 2:24,866,045...24,944,069 		JBrowse link
G Ppm1d protein phosphatase 1D magnesium-dependent, delta isoform ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,202,080...85,237,897
Ensembl chr11:85,202,070...85,237,892 		JBrowse link
G Ppm1e protein phosphatase 1E (PP2C domain containing) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,117,724...87,249,884
Ensembl chr11:87,117,732...87,249,849 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		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 chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,979,982...86,999,540
Ensembl chr11:86,979,979...86,999,534 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) 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 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283 		JBrowse link
G Qsox2 quiescin Q6 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 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		JBrowse link
G Rab9 RAB9, 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:165,240,247...165,262,863
Ensembl chr  X:165,240,249...165,262,863 		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 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Rasd1 RAS, dexamethasone-induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,854,007...59,855,770
Ensembl chr11:59,854,007...59,855,770 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr12:111,005,801...111,082,336
Ensembl chr12:111,005,785...111,082,335 		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 chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		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 2:25,132,941...25,134,273
Ensembl chr 2:25,132,941...25,134,274 		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 2:25,124,487...25,126,799
Ensembl chr 2:25,124,488...25,126,799 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,375,483...86,389,833
Ensembl chr11:86,375,483...86,389,851 		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: 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-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		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 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,814,846...88,846,268
Ensembl chr11:88,814,846...88,846,291 		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 chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506 		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 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,679,723...60,702,062
Ensembl chr11:60,678,930...60,702,544 		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 chr11:87,000,087...87,013,800
Ensembl chr11:87,000,060...87,015,461 		JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), 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 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376 		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 chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171 		JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652 		JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113 		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 chr11:86,968,558...86,977,603
Ensembl chr11:86,968,558...86,977,600 		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 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 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 2:26,527,188...26,530,256
Ensembl chr 2:26,527,180...26,530,295 		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 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		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 chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		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 chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581 		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 2:25,161,051...25,162,430
Ensembl chr 2:25,161,051...25,162,450 		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 2:25,102,219...25,108,680
Ensembl chr 2:25,102,219...25,104,649 		JBrowse link
G Supt4a SPT4A, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,628,377...87,634,449
Ensembl chr11:87,628,378...87,634,449 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,332,496...44,384,411
Ensembl chr 5:44,332,496...44,383,968 		JBrowse link
G Tbx2 T-box 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923 		JBrowse link
G Tceanc transcription elongation factor A (SII) 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:165,282,806...165,301,594
Ensembl chr  X:165,282,808...165,301,563 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tex14 testis expressed gene 14 intercellular bridge forming factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,295,839...87,446,649
Ensembl chr11:87,295,891...87,446,649 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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:166,086,376...166,113,570
Ensembl chr  X:166,087,925...166,113,554 		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:166,024,119...166,047,325
Ensembl chr  X:166,025,692...166,047,325 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		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 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr11:22,462,283...22,469,231
Ensembl chr11:22,462,088...22,469,234 		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 2:25,145,451...25,146,364
Ensembl chr 2:25,145,451...25,146,304 		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 2:25,178,153...25,179,201
Ensembl chr 2:25,178,157...25,179,201 		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 chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 More... NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		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 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Tmsb4x thymosin, beta 4, X chromosome 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:165,990,089...165,996,475
Ensembl chr  X:165,990,089...165,992,311 		JBrowse link
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr10:100,279,764...100,323,230
Ensembl chr10:100,279,764...100,323,212 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		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 chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		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 2:25,082,732...25,086,825
Ensembl chr 2:25,082,978...25,086,898 		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 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		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 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		JBrowse link
G Trappc2 trafficking protein particle complex 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:165,223,747...165,236,136
Ensembl chr  X:165,223,570...165,236,136 		JBrowse link
G Trim25 tripartite motif-containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,890,194...88,911,119
Ensembl chr11:88,890,202...88,911,119 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,017,675...87,141,700
Ensembl chr11:87,017,903...87,111,509 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,649,022...87,676,754
Ensembl chr11:87,651,367...87,676,754 		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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 2:25,112,170...25,114,714
Ensembl chr 2:25,112,172...25,114,714 		JBrowse link
G Tubd1 tubulin, delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,435,817...86,462,772
Ensembl chr11:86,435,817...86,458,186 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:62,770,281...62,786,012
Ensembl chr11:62,770,281...62,807,606 		JBrowse link
G Uap1l1 UDP-N-acteylglucosamine 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 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated 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 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:84,875,263...85,031,107
Ensembl chr11:84,875,268...85,030,987 		JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,959,084...87,975,555
Ensembl chr11:87,959,105...87,975,555 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,474,684...86,574,662
Ensembl chr11:86,474,691...86,574,662 		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 chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
G Ypel2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,827,251...86,884,629
Ensembl chr11:86,827,251...86,884,533 		JBrowse link
G Zmynd19 zinc finger, MYND domain 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 2:24,839,789...24,850,882
Ensembl chr 2:24,839,804...24,852,087 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		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 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		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 chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		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 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390 		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 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059 		JBrowse link
G Mpp4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548 		JBrowse link
G Stradb STE20-related kinase adaptor beta ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874 		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 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		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:18414213 PMID:20301500 More... NCBI chr 6:30,653,456...30,710,511
Ensembl chr 6:30,653,456...30,693,748 		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 chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		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 chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO
IAGP		 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 chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		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 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114 		JBrowse link
Joubert Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 18 OMIM
ClinVar		 PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677 		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 chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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 chr 8:112,685,552...112,718,938
Ensembl chr 8:112,693,540...112,718,934 		JBrowse link
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr 8:112,615,767...112,636,831
Ensembl chr 8:112,615,768...112,637,079 		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 chr 8:112,667,335...112,679,547
Ensembl chr 8:112,667,335...112,680,244 		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 chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
G Tmem170 transmembrane protein 170 ISO ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr 8:112,589,670...112,603,378
Ensembl chr 8:112,589,670...112,603,382 		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 chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		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 1:10,207,732...10,303,306
Ensembl chr 1:10,207,796...10,302,895 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807 PMID:24360808 PMID:28492532 NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		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 1:10,108,194...10,206,996
Ensembl chr 1:10,108,212...10,206,993 		JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:9,978,863...10,011,179
Ensembl chr 1:9,978,863...10,012,310 		JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:10,038,847...10,083,766
Ensembl chr 1:10,038,849...10,079,361 		JBrowse link
G Snhg6 small nucleolar RNA host gene 6 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:10,012,250...10,014,343
Ensembl chr 1:9,926,809...10,014,398 		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 1:10,012,695...10,012,768
Ensembl chr 1:10,012,688...10,012,774 		JBrowse link
G Tcf24 transcription factor 24 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:10,030,388...10,038,207
Ensembl chr 1:10,030,388...10,038,157 		JBrowse link
Joubert syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2810459M11Rik RIKEN cDNA 2810459M11 gene ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,973,585...85,983,178
Ensembl chr 1:85,973,585...85,983,178 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,025,724...87,029,328
Ensembl chr 1:87,025,724...87,029,328 		JBrowse link
G Alppl2 alkaline phosphatase, placental-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,014,412...87,023,656
Ensembl chr 1:87,014,416...87,017,650 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,082,436...86,207,491
Ensembl chr 1:86,082,502...86,206,006 		JBrowse link
G Atg16l1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,683,730...87,720,150
Ensembl chr 1:87,683,592...87,720,150 		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 1:86,230,943...86,235,027
Ensembl chr 1:86,230,554...86,235,027 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,707,796...85,779,298
Ensembl chr 1:85,721,162...85,779,297 		JBrowse link
G Chrnd cholinergic receptor, nicotinic, delta polypeptide ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,118,319...87,127,792
Ensembl chr 1:87,118,329...87,127,792 		JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,510,363...86,534,550
Ensembl chr 1:86,510,626...86,537,097 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,780,942...87,872,900
Ensembl chr 1:87,781,009...87,872,902 		JBrowse link
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,629,646...86,977,819
Ensembl chr 1:86,631,530...86,977,817 		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 1:88,132,454...88,133,470
Ensembl chr 1:88,132,454...88,133,504 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,070,596...87,084,867
Ensembl chr 1:87,075,377...87,084,243 		JBrowse link
G Efhd1 EF hand domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561 		JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,141,633...87,168,210
Ensembl chr 1:87,141,636...87,168,210 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,254,653...87,378,532
Ensembl chr 1:87,254,720...87,378,518 		JBrowse link
G Gm24148 predicted gene, 24148 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,279,703...86,279,849
Ensembl chr 1:86,279,703...86,279,849 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,860,927...85,924,781
Ensembl chr 1:85,866,039...85,888,729 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,186,578...88,205,366
Ensembl chr 1:88,190,193...88,205,355 		JBrowse link
G Htr2b 5-hydroxytryptamine (serotonin) receptor 2B ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,822,231...85,836,419
Ensembl chr 1:85,822,002...85,836,396 		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 1:87,312,299...87,322,451
Ensembl chr 1:87,314,085...87,322,451 		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 1:88,154,713...88,190,011
Ensembl chr 1:88,154,708...88,190,011 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,272,441...86,287,177
Ensembl chr 1:86,272,441...86,287,122 		JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,501,749...87,525,567
Ensembl chr 1:87,437,611...87,525,567 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,404,551...87,501,661
Ensembl chr 1:87,404,556...87,501,592 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,313,964...86,317,083
Ensembl chr 1:86,314,025...86,353,950 		JBrowse link
G Nppc natriuretic peptide type C ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293 		JBrowse link
G Pde6d phosphodiesterase 6D, cGMP-specific, rod, delta ISO ClinVar Annotator: match by term: Joubert syndrome 22 OMIM
ClinVar		 PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 More... NCBI chr 1:86,470,735...86,510,260
Ensembl chr 1:86,470,716...86,510,351 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
G Psmd1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,992,341...86,067,017
Ensembl chr 1:85,992,109...86,066,873 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,454,442...86,458,434
Ensembl chr 1:86,454,448...86,458,434 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		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 1:87,397,734...87,403,204
Ensembl chr 1:87,397,993...87,403,204 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,283,982...86,284,049
Ensembl chr 1:86,283,983...86,284,052 		JBrowse link
G Sp100 nuclear antigen Sp100 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,577,683...85,637,719
Ensembl chr 1:85,577,709...85,637,719 		JBrowse link
G Sp110 Sp110 nuclear body protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,498,462...85,538,571
Ensembl chr 1:85,504,620...85,526,538 		JBrowse link
G Sp140 Sp140 nuclear body protein ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,515,212...85,572,761
Ensembl chr 1:85,528,099...85,572,758 		JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:85,945,728...85,957,683
Ensembl chr 1:85,944,538...85,957,680 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,334,688...88,356,022
Ensembl chr 1:88,334,683...88,354,160 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:86,354,051...86,355,771
Ensembl chr 1:86,354,051...86,355,774 		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 1:88,234,457...88,318,909
Ensembl chr 1:88,205,383...88,317,015 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
G Ugt1a10 UDP glycosyltransferase 1 family, polypeptide A10 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,983,133...88,147,724
Ensembl chr 1:87,983,110...88,146,726 		JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,128,333...88,147,724
Ensembl chr 1:88,128,323...88,146,719 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase 1 family, polypeptide A5 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,093,734...88,147,724
Ensembl chr 1:88,093,734...88,146,719 		JBrowse link
G Ugt1a6b UDP glucuronosyltransferase 1 family, polypeptide A6B ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:88,030,979...88,146,720
Ensembl chr 1:88,030,974...88,146,725 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase 1 family, polypeptide A9 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,998,501...88,147,724
Ensembl chr 1:87,998,522...88,146,719 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 1:87,872,841...87,936,308
Ensembl chr 1:87,872,841...87,936,273 		JBrowse link
Joubert syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Joubert syndrome 23 OMIM
ClinVar		 PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
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 chr12:71,061,314...71,146,125
Ensembl chr12:71,062,764...71,145,366 		JBrowse link
G Psma3 proteasome subunit alpha 3 ISO ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr12:71,016,082...71,042,651
Ensembl chr12:71,021,395...71,043,121 		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 chr12:71,169,946...71,183,476
Ensembl chr12:71,169,947...71,183,458 		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 chr12:71,158,202...71,169,996
Ensembl chr12:71,158,202...71,169,995 		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, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,767,117...124,801,519
Ensembl chr 5:124,766,641...124,801,519 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
Joubert syndrome 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
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 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		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 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		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 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		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 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		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 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133 		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 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Aurkaip1 aurora kinase A interacting 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 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G C1qtnf12 C1q and tumor necrosis factor 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 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086 		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 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134 		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 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000 		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 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395 		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 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		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 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		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 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897 		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 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Faap20 Fanconi anemia 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 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144 		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 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938 		JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) 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 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		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 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		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 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560 		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 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253 		JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314 		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 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970 		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 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170 		JBrowse link
G Mib2 mindbomb 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 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655 		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 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442 		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 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		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 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		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 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		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 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841 		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 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962 		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 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432 		JBrowse link
G Mxra8 matrix-remodelling 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 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545 		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 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458 		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 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073 		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 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		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 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890 		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 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241 		JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		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 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818 		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 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592 		JBrowse link
G Pusl1 pseudouridylate 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 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238 		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 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839 		JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877 		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 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		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 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797 		JBrowse link
G Smim1 small integral membrane 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 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687 		JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336 		JBrowse link
G Tas1r3 taste receptor, type 1, 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 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819 		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 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		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 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315 		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 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331 		JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020 		JBrowse link
G Tnfrsf18 tumor necrosis factor 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 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Tnfrsf4 tumor necrosis factor 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 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tprg1l transformation related protein 63 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 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123 		JBrowse link
G Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		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 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584 		JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061 		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 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155 		JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877 		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 IAGP
ISO		 OMIM:616784
ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition		 MouseDO
ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741916 PMID:26714646 More... NCBI chr 7:125,307,027...125,473,967
Ensembl chr 7:125,307,060...125,473,965 		JBrowse link
Joubert Syndrome 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Joubert syndrome 27 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 More... NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		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 chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		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
IAGP
IMP		 DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM:608629
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
CTD
MouseDO
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 chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 3:18,126,108...18,298,054
Ensembl chr 3:18,126,114...18,297,502 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		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 1:86,082,436...86,207,491
Ensembl chr 1:86,082,502...86,206,006 		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 chr18:53,814,795...53,877,825
Ensembl chr18:53,814,795...53,877,680 		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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		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 chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		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 3 ISO ClinVar Annotator: match by term: Joubert syndrome 35 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30269812 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		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 chr14:20,434,706...20,438,978
Ensembl chr14:20,434,706...20,438,978 		JBrowse link
G Fam149b family with sequence similarity 149, member B ISO ClinVar Annotator: match by term: Joubert syndrome 36 OMIM
ClinVar		 PMID:25741868 PMID:30905400 NCBI chr14:20,398,221...20,433,559
Ensembl chr14:20,398,230...20,433,559 		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 chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
Joubert Syndrome 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rik RIKEN cDNA 4933427D14 gene ISO ClinVar Annotator: match by term: Joubert syndrome 38 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 More... NCBI chr11:72,044,755...72,098,308
Ensembl chr11:72,044,755...72,098,285
Ensembl chr11:72,044,755...72,098,285 		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 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		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 chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Mall mal, T cell differentiation protein-like ISO ClinVar Annotator: match by term: Joubert syndrome 4 ClinVar PMID:25741868 NCBI chr 2:127,546,310...127,571,817
Ensembl chr 2:127,546,306...127,571,852 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) 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 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		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 4:94,491,503...94,581,470
Ensembl chr 4:94,502,728...94,581,466 		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
IAGP		 ClinVar Annotator: match by term: Joubert syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:SNPs:multiple (human)
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		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
IAGP		 ClinVar Annotator: match by term: Joubert syndrome 6
CTD Direct Evidence: marker/mechanism
OMIM:610688
DNA:missense mutations, splice-site mutations: :multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... RGD:11072184 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		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 chr 5:104,599,379...104,653,685
Ensembl chr 5:104,607,316...104,653,685 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO
IAGP		 ClinVar Annotator: match by term: Joubert syndrome 7
CTD Direct Evidence: marker/mechanism
OMIM:611560
DNA:missense mutations, splice-site mutation:exon, intron:multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... RGD:11537350 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 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 chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403 		JBrowse link
G Nsun3 NOL1/NOP2/Sun domain family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,552,807...62,607,238
Ensembl chr16:62,552,807...62,607,181 		JBrowse link
G Pros1 protein S (alpha) ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,635,039...62,643,085
Ensembl chr16:62,635,039...62,644,709 		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 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		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 chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 6:30,653,456...30,710,511
Ensembl chr 6:30,653,456...30,693,748 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		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 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 chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit IAGP MouseDO NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr11:102,772,050...102,776,042
Ensembl chr11:102,772,030...102,776,042 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 IAGP MouseDO NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Daw1 dynein assembly factor with WDR repeat domains 1 IAGP MouseDO NCBI chr 1:83,136,610...83,188,298
Ensembl chr 1:83,137,473...83,188,295 		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 chr 8:120,301,974...120,325,193
Ensembl chr 8:120,301,974...120,325,193 		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 chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		JBrowse link
G Dnaaf3 dynein, axonemal assembly factor 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22387996 NCBI chr 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility IAGP
ISO		 DNA:nonsense mutation, missense mutation:R2852X, R3004Q MouseDO
RGD		 PMID:12142464 RGD:734893 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
IAGP		 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 chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO
IAGP		 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 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 IAGP MouseDO NCBI chr11:114,614,634...114,648,715
Ensembl chr11:114,618,234...114,648,715 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr12:84,161,057...84,190,291
Ensembl chr12:84,161,140...84,194,272 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome		 CTD
ClinVar
MouseDO		 PMID:23354437 PMID:25741868 NCBI chr 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		JBrowse link
G Foxj1 forkhead box J1 IAGP MouseDO NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225 		JBrowse link
G Gm572 predicted gene 572 IAGP MouseDO NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		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 7:45,572,591...45,598,387
Ensembl chr 7:45,573,496...45,598,387 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 IAGP
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr18:7,088,233...7,298,272
Ensembl chr18:7,088,209...7,297,936 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 IAGP
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Polr2k polymerase (RNA) II (DNA directed) polypeptide K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr15:36,174,156...36,177,158
Ensembl chr15:36,174,156...36,177,156 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017 		JBrowse link
G Slit2 slit guidance ligand 2 IAGP MouseDO NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		JBrowse link
G Zmynd10 zinc finger, MYND domain containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518 		JBrowse link
Meckel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr 5:124,767,117...124,801,519
Ensembl chr 5:124,766,641...124,801,519 		JBrowse link
G B9d1 B9 protein domain 1 IAGP
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A IAGP
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr19:58,500,416...58,546,504
Ensembl chr19:58,500,424...58,541,517 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 9:15,228,210...15,269,145
Ensembl chr 9:15,228,211...15,269,084 		JBrowse link
G Cep55 centrosomal protein 55 IAGP MouseDO NCBI chr19:38,043,423...38,062,873
Ensembl chr19:38,043,459...38,062,871 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		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 1:10,108,194...10,206,996
Ensembl chr 1:10,108,212...10,206,993 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 7:19,197,212...19,230,687
Ensembl chr 7:19,197,256...19,230,687 		JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 6:33,226,025...33,950,914
Ensembl chr 6:33,226,020...33,950,914 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rpgrip1l Rpgrip1-like IAGP
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IAGP MouseDO NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		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 chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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 chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 PMID:25741868 PMID:25741915 NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP
ISO		 ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr12:57,593,490...57,784,697
Ensembl chr12:57,610,899...57,784,714 		JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 PMID:25741916 PMID:27894351 PMID:29209597 PMID:31411728 NCBI chr13:55,862,463...55,874,040
Ensembl chr13:55,862,463...55,874,040 		JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		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 Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO
IAGP		 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 chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		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:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		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:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
Meckel Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 protein domain 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 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 2:122,109,727...122,129,221
Ensembl chr 2:122,109,728...122,128,930 		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 chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		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 chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249 		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:25741914 PMID:26123494 PMID:26595381 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		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:25741916 PMID:27894351 PMID:31411728 NCBI chr13:55,862,463...55,874,040
Ensembl chr13:55,862,463...55,874,040 		JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		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
IMP
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 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		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 chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		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, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,767,117...124,801,519
Ensembl chr 5:124,766,641...124,801,519 		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 chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		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 anchor protein 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,756,029...61,821,134
Ensembl chr11:61,762,133...61,821,078 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,099,336...61,109,244
Ensembl chr11:61,098,363...61,109,247 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase family 3, subfamily A2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,114,240...61,158,267
Ensembl chr11:61,114,243...61,158,290 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 OMIM
ClinVar		 PMID:21493627 PMID:25741868 PMID:25741913 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513 		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 chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		JBrowse link
G Slc47a1 solute carrier family 47, member 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171 		JBrowse link
G Slc47a2 solute carrier family 47, member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,192,453...61,233,686
Ensembl chr11:61,192,457...61,233,686 		JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652 		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 chr11:61,847,589...62,113,839
Ensembl chr11:61,847,589...62,113,839 		JBrowse link
G Ulk2 unc-51 like kinase 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9 ClinVar PMID:21493627 NCBI chr11:61,666,424...61,750,754
Ensembl chr11:61,666,475...61,745,899 		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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		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 chr 8:88,998,818...89,056,593
Ensembl chr 8:88,999,031...89,056,590 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:88,845,344...88,861,825
Ensembl chr 8:88,845,397...88,861,738 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		JBrowse link
G Nkd1 naked cuticle 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,247,961...89,321,515
Ensembl chr 8:89,247,982...89,321,512 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:89,353,189...89,362,769
Ensembl chr 8:89,353,191...89,362,756 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr 8:88,925,229...88,989,942
Ensembl chr 8:88,925,841...88,986,350 		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 chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223 		JBrowse link
primary ciliary dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2610028H24Rik RIKEN cDNA 2610028H24 gene ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,284,883...76,297,052
Ensembl chr10:76,284,915...76,296,944 		JBrowse link
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:78,105,008...78,188,335
Ensembl chr10:78,105,012...78,188,323 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18776131 PMID:20537283 PMID:22801010 NCBI chr12:105,670,115...105,748,706
Ensembl chr12:105,672,235...105,748,706 		JBrowse link
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit IAGP MouseDO NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Aptx aprataxin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194 		JBrowse link
G Aqp3 aquaporin 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220 		JBrowse link
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005 		JBrowse link
G Bag1 BCL2-associated athanogene 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr16:97,656,409...97,727,248
Ensembl chr16:97,656,409...97,763,798 		JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542 		JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,813,097...107,826,882
Ensembl chr 9:107,812,873...107,826,890 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist IAGP MouseDO NCBI chr15:79,543,437...79,551,861
Ensembl chr15:79,543,400...79,551,861 		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 chr11:102,772,050...102,776,042
Ensembl chr11:102,772,030...102,776,042 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21131974 More... NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:98,606,075...98,621,221
Ensembl chr15:98,606,088...98,621,217 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (serine) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993 		JBrowse link
G Ccl27a C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247 		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 chr13:113,124,363...113,127,313
Ensembl chr13:113,124,336...113,127,311 		JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628 		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 chr12:117,807,209...117,842,441
Ensembl chr12:117,768,024...117,842,441 		JBrowse link
G Cfap221 cilia and flagella associated protein 221 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:31636325 NCBI chr 1:119,851,070...119,934,624
Ensembl chr 1:119,851,071...119,924,964 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:32764743 NCBI chr 4:118,411,747...118,477,982
Ensembl chr 4:118,411,748...118,477,974 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002 		JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Cyb561d2 cytochrome b-561 domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,416,210...107,419,392
Ensembl chr 9:107,416,206...107,419,392 		JBrowse link
G Cybb cytochrome b-245, beta polypeptide ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010 		JBrowse link
G Daw1 dynein assembly factor with WDR repeat domains 1 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:28991257 PMID:36074124 NCBI chr 1:83,136,610...83,188,298
Ensembl chr 1:83,137,473...83,188,295 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,291,300...41,316,749
Ensembl chr 4:41,291,300...41,314,889 		JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170 		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 chr 8:120,301,974...120,325,193
Ensembl chr 8:120,301,974...120,325,193 		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 chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		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 chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		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 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		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 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		JBrowse link
G Dnaaf5 dynein, axonemal assembly factor 5 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More... NCBI chr 5:139,135,888...139,172,265
Ensembl chr 5:139,135,978...139,172,265 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:30067075 NCBI chr  X:138,963,628...139,007,546
Ensembl chr  X:138,963,628...139,007,546 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		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 chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 More... NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Dnah7b dynein, axonemal, heavy chain 7B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 1:46,105,232...46,412,711
Ensembl chr 1:46,105,475...46,412,710 		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 chr17:30,845,909...31,094,736
Ensembl chr17:30,843,328...31,096,339 		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 chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377 		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 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More... NCBI chr11:114,614,634...114,648,715
Ensembl chr11:114,618,234...114,648,715 		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 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149 		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 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167 		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 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425 		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 chr12:84,161,057...84,190,291
Ensembl chr12:84,161,140...84,194,272 		JBrowse link
G Dnmt3l DNA methyltransferase 3-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia IAGP MouseDO NCBI chr19:45,549,018...45,566,728
Ensembl chr19:45,549,054...45,568,202 		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 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		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:9,520,509...9,529,222
Ensembl chr  X:9,520,506...9,529,242 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732 		JBrowse link
G Fam162b family with sequence similarity 162, member B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:51,461,510...51,466,686
Ensembl chr10:51,461,512...51,466,613 		JBrowse link
G Fam187a family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:102,775,995...102,777,557
Ensembl chr11:102,775,995...102,777,557 		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 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538 		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 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,034,248...45,084,555
Ensembl chr 4:45,034,247...45,084,604 		JBrowse link
G Foxj1 forkhead box J1 IAGP MouseDO NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,183,958...45,285,936
Ensembl chr 4:45,184,875...45,285,936 		JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172 		JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695 		JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:25741868 PMID:30665704 NCBI chr11:83,312,461...83,320,347
Ensembl chr11:83,312,728...83,320,281 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389 		JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,997,900...78,005,589
Ensembl chr10:77,997,900...78,005,616 		JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118 		JBrowse link
G Gm572 predicted gene 572 IAGP MouseDO NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		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 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177 		JBrowse link
G Gprc6a G protein-coupled receptor, family C, group 6, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:51,490,919...51,507,554
Ensembl chr10:51,490,919...51,507,557 		JBrowse link
G Grhpr glyoxylate reductase/hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:9,713,186...9,713,739
Ensembl chr  X:9,713,167...9,713,747 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639 		JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:120,288,717...120,301,930
Ensembl chr 8:120,288,728...120,301,922 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:32,163,743...32,253,869
Ensembl chr17:32,163,743...32,255,323 		JBrowse link
G Hyal1 hyaluronoglucosaminidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909 		JBrowse link
G Hyal2 hyaluronoglucosaminidase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978 		JBrowse link
G Hyal3 hyaluronoglucosaminidase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558 		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 5:24,120,274...24,235,694
Ensembl chr 5:24,120,274...24,235,688 		JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885 		JBrowse link
G Icosl icos ligand ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747 		JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,464,917...107,470,237
Ensembl chr 9:107,464,841...107,470,584 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887 		JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086 		JBrowse link
G Krtap10-22 keratin associated protein 10-22 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159 		JBrowse link
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376 		JBrowse link
G Krtap10-33 keratin associated protein 10-33 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591 		JBrowse link
G Krtap10-34 keratin associated protein 10-34 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088 		JBrowse link
G Krtap12-22 keratin associated protein 12-22 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843 		JBrowse link
G Krtap12-23 keratin associated protein 12-23 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809 		JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr12:69,215,588...69,225,786
Ensembl chr12:69,215,588...69,225,783 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370 		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 9:107,469,825...107,475,189
Ensembl chr 9:107,469,829...107,474,274 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474 		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 chr13:113,130,104...113,138,233
Ensembl chr13:113,130,379...113,136,928 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,300,876...44,364,301
Ensembl chr 4:44,300,876...44,364,675 		JBrowse link
G Mgat2 mannoside acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:120,121,591...120,148,577
Ensembl chr 8:120,121,617...120,137,841 		JBrowse link
G Mon1a MON1 homolog A, secretory traffciking associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,765,282...107,780,338
Ensembl chr 9:107,765,350...107,780,338 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		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 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase core subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,739,089...31,750,300
Ensembl chr17:31,739,089...31,750,305 		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 chr 8:120,173,431...120,199,379
Ensembl chr 8:120,173,458...120,199,379 		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 4:40,970,906...41,025,992
Ensembl chr 4:40,970,906...41,025,993 		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 chr13:19,829,248...19,881,996
Ensembl chr13:19,829,248...19,881,964 		JBrowse link
G Nol6 nucleolar protein family 6 (RNA-associated) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,114,427...41,124,450
Ensembl chr 4:41,114,427...41,124,455 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Nprl2 NPR2 like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926 		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 7:45,572,591...45,598,387
Ensembl chr 7:45,573,496...45,598,387 		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 chr18:7,088,233...7,298,272
Ensembl chr18:7,088,209...7,297,936 		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 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Odad4 outer dynein arm complex subunit 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr11:100,436,434...100,463,392
Ensembl chr11:100,436,433...100,463,394 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		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 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595 		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 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255 		JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:120,160,874...120,172,996
Ensembl chr 8:120,160,863...120,172,995 		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:10,118,584...10,187,275
Ensembl chr  X:10,118,544...10,187,263 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,597,688...76,797,951
Ensembl chr10:76,597,691...76,797,721 		JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IAGP MouseDO NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284 		JBrowse link
G Pfkl phosphofructokinase, liver, B-type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819 		JBrowse link
G Pknox1 Pbx/knotted 1 homeobox ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409 		JBrowse link
G Pole2 polymerase (DNA directed), epsilon 2 (p59 subunit) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr12:69,248,547...69,274,979
Ensembl chr12:69,248,547...69,274,969 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More... NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
G Polr1e polymerase (RNA) I polypeptide E ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,018,609...45,034,279
Ensembl chr 4:45,018,583...45,036,565 		JBrowse link
G Prdm15 PR domain containing 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050 		JBrowse link
G Prkar1b protein kinase, cAMP dependent regulatory, type I beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 NCBI chr 5:139,003,059...139,136,458
Ensembl chr 5:139,003,061...139,135,756 		JBrowse link
G Pttg1ip pituitary tumor-transforming 1 interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566 		JBrowse link
G Pwp2 PWP2 periodic tryptophan protein homolog (yeast) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:78,006,743...78,021,005
Ensembl chr10:78,006,743...78,020,983 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor (GEF) 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:117,480,146...117,723,472
Ensembl chr12:117,480,099...117,723,472 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,617,694...107,648,228
Ensembl chr 9:107,617,570...107,648,195 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,650,758...107,751,028
Ensembl chr 9:107,650,758...107,750,436 		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 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806 		JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:51,553,856...51,606,525
Ensembl chr10:51,553,852...51,606,528 		JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,126,210...44,233,929
Ensembl chr 4:44,126,210...44,233,789 		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:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpl36al ribosomal protein L36A-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr12:69,229,508...69,230,841
Ensembl chr12:69,229,505...69,230,857 		JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534 		JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:78,236,196...78,248,877
Ensembl chr10:78,236,218...78,248,877 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:32,255,087...32,281,839
Ensembl chr17:32,255,074...32,281,839 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23993197 PMID:24033266 More... NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656 		JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 More... NCBI chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017 		JBrowse link
G Rsph9 radial spoke head 9 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More... NCBI chr17:46,432,964...46,455,171
Ensembl chr17:46,432,961...46,455,142 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088 		JBrowse link
G Sema3b sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428 		JBrowse link
G Sema3f sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157 		JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778 		JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Slc37a1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,528,353...107,546,167
Ensembl chr 9:107,527,833...107,546,729 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437 		JBrowse link
G Slit2 slit guidance ligand 2 IAGP MouseDO NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,322,489...77,352,758
Ensembl chr10:77,322,495...77,351,619 		JBrowse link
G Smu1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,735,649...40,757,885
Ensembl chr 4:40,736,542...40,757,923 		JBrowse link
G Sp4 trans-acting transcription factor 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:118,195,421...118,265,211
Ensembl chr12:118,198,668...118,265,175 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594 		JBrowse link
G Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,394,180...76,406,035
Ensembl chr10:76,398,106...76,406,035 		JBrowse link
G Spef2 sperm flagellar 2 IAGP
ISO		 ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar		 PMID:31942643 NCBI chr15:9,578,279...9,748,954
Ensembl chr15:9,578,279...9,748,954 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,920,056...40,931,395
Ensembl chr 4:40,920,052...40,931,395 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333 		JBrowse link
G Srpx sushi-repeat-containing protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:9,904,216...9,983,879
Ensembl chr  X:9,904,216...9,983,948 		JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:9,613,851...9,871,268
Ensembl chr  X:9,751,861...9,860,782 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase I, C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400 PMID:19944405 PMID:24033266 PMID:28492532 NCBI chr 8:120,324,713...120,331,945
Ensembl chr 8:120,324,610...120,331,961 		JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251 		JBrowse link
G Tff2 trefoil factor 2 (spasmolytic protein 1) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,360,036...31,363,256
Ensembl chr17:31,360,023...31,363,256 		JBrowse link
G Tff3 trefoil factor 3, intestinal ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Tmem115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,411,144...107,415,855
Ensembl chr 9:107,411,144...107,415,872 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,472,180...40,475,653
Ensembl chr 4:40,472,180...40,477,168 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
G Tnni3 troponin I, cardiac 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22387996 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:4,521,304...4,526,228
Ensembl chr 7:4,521,304...4,527,228 		JBrowse link
G Tnnt1 troponin T1, skeletal, slow ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:4,507,568...4,518,974
Ensembl chr 7:4,507,569...4,519,381 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,105,209...45,108,113
Ensembl chr 4:45,105,208...45,108,114 		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 5:24,043,942...24,049,143
Ensembl chr 5:24,043,942...24,049,159 		JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850 		JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,828,158...107,849,469
Ensembl chr 9:107,827,335...107,849,469 		JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475 		JBrowse link
G Trio triple functional domain (PTPRF interacting) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:45,297,158...45,316,181
Ensembl chr 4:45,297,127...45,316,131 		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 chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397 		JBrowse link
G Try4 trypsin 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:41,279,206...41,282,467
Ensembl chr 6:41,279,203...41,282,466 		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 chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		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 3:33,853,923...33,869,009
Ensembl chr 3:33,853,981...33,869,009 		JBrowse link
G Ttll1 tubulin tyrosine ligase-like 1 IAGP MouseDO NCBI chr15:83,367,258...83,402,675
Ensembl chr15:83,367,970...83,395,094 		JBrowse link
G Tusc2 tumor suppressor 2, mitochondrial calcium regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:107,440,454...107,443,307
Ensembl chr 9:107,440,454...107,443,311 		JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,348,996...41,389,766
Ensembl chr 4:41,348,996...41,390,525 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,194,313...41,276,016
Ensembl chr 4:41,194,313...41,275,144 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,426,842...31,478,655
Ensembl chr17:31,426,847...31,465,866 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:41,136,021...41,193,370
Ensembl chr 4:41,135,743...41,193,380 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,173,614...31,229,684
Ensembl chr17:31,173,614...31,229,684 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
G Ybey ybeY metallopeptidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:76,295,401...76,304,948
Ensembl chr10:76,295,401...76,304,948 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr16:97,746,993...97,763,850
Ensembl chr16:97,744,557...97,763,822 		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 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412 		JBrowse link
G Zcchc7 zinc finger, CCHC domain containing 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:44,756,556...44,932,215
Ensembl chr 4:44,755,877...44,932,215 		JBrowse link
G Zmynd10 zinc finger, MYND domain 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 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr10:33,795,138...33,827,316
Ensembl chr10:33,795,138...33,827,265 		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 IAGP
ISO		 OMIM:244400
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition		 MouseDO
ClinVar
OMIM		 PMID:9536098 PMID:11231901 PMID:16858015 PMID:17576681 PMID:19300481 More... NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More... NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		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
IAGP		 ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10
CTD Direct Evidence: marker/mechanism
OMIM:612518		 OMIM
ClinVar
CTD
MouseDO		 PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		JBrowse link
G Mgat2 mannoside acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544 		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 4 homolog A (Chlamydomonas) 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 chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017 		JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 ClinVar PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
G Rsph9 radial spoke head 9 homolog (Chlamydomonas) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12		 OMIM
CTD
ClinVar		 PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:46,432,964...46,455,171
Ensembl chr17:46,432,961...46,455,142 		JBrowse link
primary ciliary dyskinesia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf1 dynein, axonemal assembly factor 1 ISO ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 More... NCBI chr 8:120,301,974...120,325,193
Ensembl chr 8:120,301,974...120,325,193 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase I, C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 ClinVar PMID:25741868 NCBI chr 8:120,324,713...120,331,945
Ensembl chr 8:120,324,610...120,331,961 		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 containing 39 ISO
IAGP		 ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14
CTD Direct Evidence: marker/mechanism
OMIM:613807		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 More... NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		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 3:33,853,923...33,869,009
Ensembl chr 3:33,853,981...33,869,009 		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 containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		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 family 6, subfamily A1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,477,491...84,497,798
Ensembl chr12:84,477,491...84,497,778 		JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,455,243...84,488,279
Ensembl chr12:84,455,845...84,489,661 		JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,408,530...84,420,570
Ensembl chr12:84,408,431...84,420,570 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:84,161,057...84,190,291
Ensembl chr12:84,161,140...84,194,272 		JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,420,649...84,455,803
Ensembl chr12:84,420,631...84,455,803 		JBrowse link
G Fam161b family with sequence similarity 161, member B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,392,088...84,408,633
Ensembl chr12:84,392,083...84,408,607 		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 chr12:84,497,965...84,593,293
Ensembl chr12:84,498,196...84,592,919 		JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,195,942...84,265,679
Ensembl chr12:84,195,950...84,265,655 		JBrowse link
G Pnma1 paraneoplastic antigen MA1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,192,905...84,195,263
Ensembl chr12:84,192,905...84,195,263 		JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,332,011...84,362,606
Ensembl chr12:84,332,006...84,362,606 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr12:84,363,615...84,391,213
Ensembl chr12:84,363,626...84,390,497 		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 chr11:102,772,050...102,776,042
Ensembl chr11:102,772,030...102,776,042 		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 chr11:102,775,995...102,777,557
Ensembl chr11:102,775,995...102,777,557 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		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 chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890 		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 chr 5:139,135,888...139,172,265
Ensembl chr 5:139,135,978...139,172,265 		JBrowse link
G Prkar1b protein kinase, cAMP dependent regulatory, type I beta ISO ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 PMID:28492532 PMID:29363216 NCBI chr 5:139,003,059...139,136,458
Ensembl chr 5:139,003,061...139,135,756 		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
IAGP		 ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19
CTD Direct Evidence: marker/mechanism
OMIM:614935		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 More... NCBI chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		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
IAGP		 ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2
CTD Direct Evidence: marker/mechanism
OMIM:606763		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10745040 PMID:17576681 PMID:22387996 PMID:24033266 More... NCBI chr 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		JBrowse link
G Tnni3 troponin I, cardiac 3 ISO ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:4,521,304...4,526,228
Ensembl chr 7:4,521,304...4,527,228 		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 7:45,572,591...45,598,387
Ensembl chr 7:45,573,496...45,598,387 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 21
OMIM:615294		 OMIM
CTD
ClinVar
MouseDO		 PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 More... NCBI chr 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		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 domain containing 10 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition
OMIM:615444		 OMIM
CTD
ClinVar
MouseDO		 PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518 		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
IAGP		 ClinVar Annotator: match by term: Primary ciliary dyskinesia 23
CTD Direct Evidence: marker/mechanism
OMIM:615451		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More... NCBI chr18:7,088,233...7,298,272
Ensembl chr18:7,088,209...7,297,936 		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 1 homolog (Chlamydomonas) 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 chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		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 IAGP
ISO		 OMIM:615482
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25		 MouseDO
OMIM
CTD
ClinVar		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 More... NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		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 associate protien 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 chr16:90,721,178...90,731,737
Ensembl chr16:90,722,697...90,732,002 		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 chr15:98,606,075...98,621,221
Ensembl chr15:98,606,088...98,621,217 		JBrowse link
primary ciliary dyskinesia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2k polymerase (RNA) II (DNA directed) polypeptide K ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 ClinVar PMID:24055112 NCBI chr15:36,174,156...36,177,158
Ensembl chr15:36,174,156...36,177,156 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		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 chr13:113,124,363...113,127,313
Ensembl chr13:113,124,336...113,127,311 		JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 ClinVar PMID:8900227 PMID:9600243 PMID:10649503 PMID:10699052 PMID:10960496 More... NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		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 and CNC homology, basic leucine zipper transcription factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar PMID:28492532 NCBI chr 4:32,238,413...32,586,109
Ensembl chr 4:32,238,804...32,586,108 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO
IAGP		 ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
CTD Direct Evidence: marker/mechanism
OMIM:608644		 OMIM
ClinVar
CTD
MouseDO		 PMID:2127064 PMID:2389146 PMID:9536098 PMID:11062149 PMID:11788826 More... NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr11:83,312,461...83,320,347
Ensembl chr11:83,312,728...83,320,281 		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 chr13:113,130,104...113,138,233
Ensembl chr13:113,130,379...113,136,928 		JBrowse link
G Mpeg1 macrophage expressed gene 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr19:12,438,134...12,442,649
Ensembl chr19:12,438,143...12,442,647 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		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
IAGP		 ClinVar Annotator: match by term: Primary ciliary dyskinesia 30
CTD Direct Evidence: marker/mechanism
OMIM:616037		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 More... NCBI chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 ClinVar PMID:25741868 NCBI chr 9:21,914,314...21,925,521
Ensembl chr 9:21,914,102...21,925,518 		JBrowse link
primary ciliary dyskinesia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlt1b dynein light chain Tctex-type 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | 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 chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443 		JBrowse link
G Tagap T cell activation Rho GTPase activating protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729 		JBrowse link
G Tmem181a transmembrane protein 181A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403 		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 chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		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 chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,231,744...124,245,535
Ensembl chr 8:124,231,457...124,242,202 		JBrowse link
G Def8 differentially expressed in FDCP 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,169,725...124,190,009
Ensembl chr 8:124,150,266...124,190,009 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Gas8 growth arrest specific 8 IAGP
ISO		 OMIM:616726
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 More... NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478 		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 chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254 		JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 ClinVar PMID:28492532 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990 		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 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167 		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 complex subunit 4 IAGP
ISO		 OMIM:617092
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 35		 MouseDO
CTD
ClinVar
OMIM		 PMID:25741868 PMID:27486780 NCBI chr11:100,436,434...100,463,392
Ensembl chr11:100,436,433...100,463,394 		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:138,963,628...139,007,546
Ensembl chr  X:138,963,628...139,007,546 		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:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 More... NCBI chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		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 9:8,021,673...8,042,876
Ensembl chr 9:8,021,673...8,042,824 		JBrowse link
primary ciliary dyskinesia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741909 PMID:28492532 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		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 chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377 		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 chr11:83,312,461...83,320,347
Ensembl chr11:83,312,728...83,320,281 		JBrowse link
primary ciliary dyskinesia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 OMIM
ClinVar		 PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 More... NCBI chr13:113,130,104...113,138,233
Ensembl chr13:113,130,379...113,136,928 		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 chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225 		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 (never in mitosis gene a)- related kinase 10 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 OMIM
ClinVar		 PMID:25741868 PMID:25741909 NCBI chr14:7,457,704...7,666,183
Ensembl chr14:7,457,704...7,666,348 		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, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 OMIM
ClinVar		 PMID:1978331 PMID:25741868 NCBI chr 9:49,348,261...49,397,572
Ensembl chr 9:49,348,263...49,397,525 		JBrowse link
Primary Ciliary Dyskinesia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28543983 NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053 		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 chr18:34,695,687...34,712,168
Ensembl chr18:34,695,687...34,712,168 		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 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		JBrowse link
primary ciliary dyskinesia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hydin HYDIN, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 More... NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885 		JBrowse link
Primary Ciliary Dyskinesia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah7b dynein, axonemal, heavy chain 7B ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 OMIM
ClinVar		 PMID:25741868 PMID:34476482 PMID:35543642 NCBI chr 1:46,105,232...46,412,711
Ensembl chr 1:46,105,475...46,412,710 		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 chr16:95,793,289...95,883,905
Ensembl chr16:95,793,292...95,883,726 		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 WDR repeat domains 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 OMIM
ClinVar		 PMID:28991257 PMID:36074124 NCBI chr 1:83,136,610...83,188,298
Ensembl chr 1:83,137,473...83,188,295 		JBrowse link
Primary Ciliary Dyskinesia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53 OMIM
ClinVar		 PMID:25741868 PMID:36727596 NCBI chr16:14,724,315...14,786,925
Ensembl chr16:14,724,470...14,799,235 		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 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484 		JBrowse link
G Aoah acyloxyacyl hydrolase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr13:20,978,273...21,220,787
Ensembl chr13:20,978,283...21,220,787 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523 		JBrowse link
G Gpr141 G protein-coupled receptor 141 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr13:19,933,850...20,008,499
Ensembl chr13:19,933,852...20,008,427 		JBrowse link
G Matcap2 microtubule associated tyrosine carboxypeptidase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr 9:22,299,849...22,355,980
Ensembl chr 9:22,322,809...22,355,977 		JBrowse link
G Nme8 NME/NM23 family member 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 More... NCBI chr13:19,829,248...19,881,996
Ensembl chr13:19,829,248...19,881,964 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr13:19,807,345...19,816,995
Ensembl chr13:19,807,274...19,817,164 		JBrowse link
primary ciliary dyskinesia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 ClinVar PMID:18022865 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 More... NCBI chr12:117,807,209...117,842,441
Ensembl chr12:117,768,024...117,842,441 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO
IAGP		 ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7
CTD Direct Evidence: marker/mechanism
OMIM:611884		 OMIM
ClinVar
CTD
MouseDO		 PMID:2690980 PMID:9536098 PMID:9585585 PMID:12142464 PMID:16199547 More... NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		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 chr11:114,614,634...114,648,715
Ensembl chr11:114,618,234...114,648,715 		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 chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      ciliopathy 1023
        Alstrom syndrome 13
        Bardet-Biedl syndrome + 234
        Caroli disease + 4
        Ciliary Motility Disorders + 372
        Joubert syndrome + 416
        Meckel syndrome + 50
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            ciliopathy 1023
              Alstrom syndrome 13
              Bardet-Biedl syndrome + 234
              Caroli disease + 4
              Ciliary Motility Disorders + 372
              Joubert syndrome + 416
              Meckel syndrome + 50
paths to the root