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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:Joubert syndrome
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Accession:DOID:0050777 term browser browse the term
Definition:A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Synonyms:exact_synonym: JBTS;   Joubert syndrome and related disorders
 xref: GARD:6802;   OMIM:PS213300;   ORDO:475
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15322546, PMID:16155189, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:22236771, PMID:22693042, PMID:22773737, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25616960, PMID:25741868, PMID:25920555, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28431631, PMID:28442542, PMID:28492532 NCBI chrNW_004936560:2,881,631...3,057,256 JBrowse link
G Arl13b ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chrNW_004936666:115,964...179,639 JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chrNW_004936525:5,518,691...5,648,109 JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936687:1,435,977...1,437,138 JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936558:1,104,627...1,138,487 JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:21493627, PMID:24886560, PMID:25741868, PMID:25920555, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chrNW_004936881:396,930...411,059 JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:25741868, PMID:26092869, PMID:28492532 NCBI chrNW_004936661:3,759,031...3,765,361 JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988, PMID:25741868, PMID:26092869 NCBI chrNW_004936498:3,099,419...3,242,334 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 and Related Disorders
ClinVar PMID:18414213, PMID:18950740, PMID:19466712, PMID:19574260, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22246503, PMID:22425360, PMID:22995991, PMID:23012439, PMID:23692786, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:26673778, PMID:27081510, PMID:27082236, PMID:27848944, PMID:27894351, PMID:28492532, PMID:30267408, PMID:30311386 NCBI chrNW_004936477:12,315,829...12,415,915 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:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21493627, PMID:21602930, PMID:21866095, PMID:22334370, PMID:22355252, PMID:22693042, PMID:22699515, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:24850569, PMID:25097241, PMID:25377065, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:26673778, PMID:27032803, PMID:27353947, PMID:27422788, PMID:27491411, PMID:27821535, PMID:27848944, PMID:28041643, PMID:28157192, PMID:28224992, PMID:28453600, PMID:28492532, PMID:28497568, PMID:28510626, PMID:28559085, PMID:28660274, PMID:28771248, PMID:28829391, PMID:28973549, PMID:29146704, PMID:29178642, PMID:29186038, PMID:29343940, PMID:29398085, PMID:29588463, PMID:29844330, PMID:29970488, PMID:30193310, PMID:30311386, PMID:30718709 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chrNW_004936579:4,847,137...4,890,478 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chrNW_004936694:779,399...810,534 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22425360, PMID:24033266, PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chrNW_004936518:4,706,496...4,847,283 JBrowse link
G CUNH12orf29 chromosome unknown C12orf29 homolog ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:16682973, PMID:16909394, PMID:17564967, PMID:19764032, PMID:20683928, PMID:23954617, PMID:24850569, PMID:25741868, PMID:27821535, PMID:28492532, PMID:29588463, PMID:30193310 NCBI chrNW_004936507:5,210,561...5,223,320 JBrowse link
G CUNH12orf50 chromosome unknown C12orf50 homolog ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chrNW_004936507:5,175,266...5,207,462 JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chrNW_004936484:19,403,458...19,407,202 JBrowse link
G Fam149b1 family with sequence similarity 149 member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chrNW_004936521:5,795,821...5,846,195 JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chrNW_004936475:6,321,725...6,689,410 JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chrNW_004936493:5,108,437...5,145,160 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
RGD
ClinVar
PMID:15786477, PMID:18414213, PMID:19668215, PMID:19668216, PMID:23034536, PMID:23386033, PMID:23847139, PMID:25133751, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27081510, PMID:28492532, PMID:28559085, PMID:29052317, PMID:29186038, PMID:29230161, PMID:29555955, PMID:30202406 RGD:12911208 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chrNW_004936501:11,189,400...11,326,594 JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chrNW_004936495:2,799,738...2,933,157 JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chrNW_004936507:5,566,144...5,650,412 JBrowse link
G LOC101974571 cytochrome b ascorbate-dependent protein 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chrNW_004936581:1,685,876...1,696,159 JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chrNW_004936593:2,605,449...2,623,909 JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chrNW_004936544:78,450...114,341 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:19466712, PMID:21068128, PMID:21228398, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:24608809, PMID:24886560, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:26862157, PMID:27377014, PMID:27570071, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30311386, PMID:30718709 NCBI chrNW_004936490:4,865,243...4,876,601 JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11179005, PMID:12595504, PMID:16311594, PMID:16783569, PMID:18414213, PMID:18546297, PMID:23033313, PMID:24476948, PMID:24884629, PMID:25741868, PMID:26467025, PMID:27081566, PMID:28289185, PMID:28492532 NCBI chrNW_004936470:3,292,961...3,331,915 JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chrNW_004936475:23,332,093...23,373,151 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chrNW_004936511:7,860,552...8,082,850 JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chrNW_004936835:747,758...798,505 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:17558407, PMID:17558409, PMID:17960139, PMID:18414213, PMID:18565097, PMID:19430481, PMID:21866095, PMID:22693042, PMID:23188109, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29620724, PMID:29991045, PMID:30311386 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,344,019...1,375,483 JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chrNW_004936558:3,552,909...3,581,212 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:21565611, PMID:22331178, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chrNW_004936558:1,142,608...1,168,755 JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chrNW_004936581:1,679,265...1,683,568 JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chrNW_004936491:7,721,150...7,726,983 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 Annotator: match by term: Joubert Syndrome and Related Disorders
RGD
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568 RGD:11067331 NCBI chrNW_004936581:1,654,021...1,658,526 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:25741868 NCBI chrNW_004936475:24,215,817...24,232,689 JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome
RGD
ClinVar
PMID:17603801, PMID:22152675, PMID:22981120, PMID:24033266, PMID:25741868, PMID:28492532 RGD:11561921 NCBI chrNW_004936726:872,368...892,185 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:2929661, PMID:9375913, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21493627, PMID:21633164, PMID:21866095, PMID:23351400, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26191240, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28125082, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28719906, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386 NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chrNW_004936507:5,305,489...5,349,828 JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chrNW_004936583:4,213,853...4,298,916 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936469:13,365,168...13,454,340 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16963483, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:29767709, PMID:30245029 NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:27158779, PMID:28492532 NCBI chrNW_004936491:8,238,644...8,749,172 JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:15322546, PMID:15467982, PMID:16453322, PMID:21623382, PMID:25616960, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chrNW_004936560:2,881,631...3,057,256 JBrowse link
G Arl13b ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936666:115,964...179,639 JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936687:1,435,977...1,437,138 JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560, PMID:26092869 NCBI chrNW_004936881:396,930...411,059 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:18950740, PMID:19777577, PMID:21068128, PMID:22241855, PMID:22425360, PMID:22995991, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chrNW_004936477:12,315,829...12,415,915 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23847139, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chrNW_004936518:4,706,496...4,847,283 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO OMIM NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Micall2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chrNW_004936754:1,567,815...1,586,843 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389, PMID:17397051, PMID:23351400, PMID:28492532 NCBI chrNW_004936490:4,865,243...4,876,601 JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004936470:3,292,961...3,331,915 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 PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chrNW_004936558:3,552,909...3,581,212 JBrowse link
G Tmem216 transmembrane protein 216 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 PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532, PMID:28497568 NCBI chrNW_004936581:1,654,021...1,658,526 JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936726:872,368...892,185 JBrowse link
G Tmem67 transmembrane protein 67 ISO 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: Familial aplasia of the vermis
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936469:13,365,168...13,454,340 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 OMIM NCBI chrNW_004936470:3,292,961...3,331,915 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 chrNW_004936483:15,430,735...15,450,872 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 OMIM NCBI chrNW_004936558:3,552,909...3,581,212 JBrowse link
Joubert syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chrNW_004936726:734,269...867,709 JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chrNW_004936726:893,411...938,876 JBrowse link
G Tmem237 transmembrane protein 237 ISO OMIM NCBI chrNW_004936726:872,368...892,185 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 OMIM NCBI chrNW_004936579:4,847,137...4,890,478 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 OMIM NCBI chrNW_004936581:1,679,265...1,683,568 JBrowse link
Joubert Syndrome 17 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 OMIM NCBI chrNW_004936518:4,706,496...4,847,283 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 OMIM NCBI chrNW_004936636:3,722,985...3,750,440 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 OMIM NCBI chrNW_004936581:1,654,021...1,658,526 JBrowse link
Joubert syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem231 transmembrane protein 231 ISO OMIM NCBI chrNW_004936475:24,215,817...24,232,689 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:24360807, PMID:24360808, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chrNW_004936496:6,807,388...6,914,960 JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chrNW_004936496:7,035,973...7,050,538 JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO OMIM NCBI chrNW_004936496:6,915,840...7,036,205 JBrowse link
G Ppp1r42 protein phosphatase 1 regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chrNW_004936496:7,063,335...7,112,890 JBrowse link
Joubert Syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6d phosphodiesterase 6D ISO OMIM NCBI chrNW_004936525:5,186,501...5,240,859 JBrowse link
Joubert Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa0586 KIAA0586 ortholog ISO OMIM NCBI chrNW_004936495:2,799,738...2,933,157 JBrowse link
Joubert syndrome 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936558:1,104,627...1,138,487 JBrowse link
G Tctn2 tectonic family member 2 ISO OMIM NCBI chrNW_004936558:1,142,608...1,168,755 JBrowse link
Joubert Syndrome 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep104 centrosomal protein 104 ISO OMIM NCBI chrNW_004936737:98,346...127,932 JBrowse link
Joubert Syndrome 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnip katanin interacting protein ISO OMIM NCBI chrNW_004936501:11,189,400...11,326,594 JBrowse link
Joubert Syndrome 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO OMIM NCBI chrNW_004936881:396,930...411,059 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 OMIM NCBI chrNW_004936490:4,865,243...4,876,601 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 OMIM NCBI chrNW_004936560:2,881,631...3,057,256 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 OMIM NCBI chrNW_004936525:5,518,691...5,648,109 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 OMIM NCBI chrNW_004936575:3,695,473...3,770,522 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 OMIM NCBI chrNW_004936600:3,270,662...3,381,722 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 OMIM NCBI chrNW_004936511:7,860,552...8,082,850 JBrowse link
JOUBERT SYNDROME 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISO OMIM NCBI chrNW_004936600:3,190,212...3,229,831 JBrowse link
Joubert Syndrome 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam149b1 family with sequence similarity 149 member B1 ISO OMIM NCBI chrNW_004936521:5,795,821...5,846,195 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 chrNW_004936560:2,881,631...3,057,256 JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chrNW_004936623:802,152...904,198 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 OMIM NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G CUNH12orf29 chromosome unknown C12orf29 homolog ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936507:5,210,561...5,223,320 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 OMIM NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chrNW_004936880:440,900...511,503 JBrowse link
G Rpgrip1l RPGRIP1 like ISO OMIM NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
Joubert syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP ribosylation factor like GTPase 13B ISO OMIM NCBI chrNW_004936666:115,964...179,639 JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936666:183,536...236,580 JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936666:18,303...110,357 JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chrNW_004936666:145,946...147,292 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 chrNW_004936602:4,264,896...4,278,160 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple OMIM
RGD
PMID:22241855 RGD:11062645 NCBI chrNW_004936477:12,315,829...12,415,915 JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500, PMID:22246503, PMID:28492532 NCBI chrNW_004936579:4,847,137...4,890,478 JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chrNW_004936471:26,781,420...26,856,556 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 OMIM NCBI chrNW_004936518:4,706,496...4,847,283 JBrowse link
Meckel Syndrome, Type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO OMIM NCBI chrNW_004936661:3,759,031...3,765,361 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 OMIM NCBI chrNW_004936469:13,365,168...13,454,340 JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf423 zinc finger protein 423 ISO OMIM NCBI chrNW_004936475:2,699,722...2,956,734 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11942
    syndrome 5841
      ciliopathy 211
        Joubert syndrome 68
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 1
          Joubert Syndrome 16 1
          Joubert Syndrome 17 1
          Joubert Syndrome 18 1
          Joubert Syndrome 2 1
          Joubert Syndrome 22 1
          Joubert Syndrome 23 1
          Joubert Syndrome 25 1
          Joubert Syndrome 26 1
          Joubert Syndrome 27 1
          Joubert Syndrome 28 1
          Joubert Syndrome 36 1
          Joubert syndrome 1 17
          Joubert syndrome 10 1
          Joubert syndrome 14 3
          Joubert syndrome 15 1
          Joubert syndrome 20 1
          Joubert syndrome 21 4
          Joubert syndrome 24 2
          Joubert syndrome 29 0
          Joubert syndrome 3 1
          Joubert syndrome 30 1
          Joubert syndrome 31 1
          Joubert syndrome 32 1
          Joubert syndrome 33 1
          Joubert syndrome 4 2
          Joubert syndrome 5 2
          Joubert syndrome 6 1
          Joubert syndrome 7 2
          Joubert syndrome 8 4
          Joubert syndrome 9 4
          Joubert syndrome with orofaciodigital defect 1
          Meckel Syndrome, Type 10 1
          nephronophthisis 12 1
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 11942
    Developmental Diseases 8508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7473
        genetic disease 7043
          monogenic disease 5222
            ciliopathy 211
              Joubert syndrome 68
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 1
                Joubert Syndrome 16 1
                Joubert Syndrome 17 1
                Joubert Syndrome 18 1
                Joubert Syndrome 2 1
                Joubert Syndrome 22 1
                Joubert Syndrome 23 1
                Joubert Syndrome 25 1
                Joubert Syndrome 26 1
                Joubert Syndrome 27 1
                Joubert Syndrome 28 1
                Joubert Syndrome 36 1
                Joubert syndrome 1 17
                Joubert syndrome 10 1
                Joubert syndrome 14 3
                Joubert syndrome 15 1
                Joubert syndrome 20 1
                Joubert syndrome 21 4
                Joubert syndrome 24 2
                Joubert syndrome 29 0
                Joubert syndrome 3 1
                Joubert syndrome 30 1
                Joubert syndrome 31 1
                Joubert syndrome 32 1
                Joubert syndrome 33 1
                Joubert syndrome 4 2
                Joubert syndrome 5 2
                Joubert syndrome 6 1
                Joubert syndrome 7 2
                Joubert syndrome 8 4
                Joubert syndrome 9 4
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome, Type 10 1
                nephronophthisis 12 1
                nephronophthisis 14 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.