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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 1700017N19Rik RIKEN cDNA 1700017N19 gene ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr10:100,590,484...100,618,395
Ensembl chr10:100,590,484...100,618,401
JBrowse link
G 2700049A03Rik RIKEN cDNA 2700049A03 gene 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 chr12:71,136,848...71,309,964
Ensembl chr12:71,136,848...71,243,303
JBrowse link
G 4930430F08Rik RIKEN cDNA 4930430F08 gene 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 chr10:100,572,274...100,589,390
Ensembl chr10:100,572,265...100,590,423
JBrowse link
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 chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429
JBrowse link
G Arl13b ADP-ribosylation factor-like 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr16:62,793,308...62,847,055
Ensembl chr16:62,793,685...62,847,040
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chr 1:86,154,729...86,278,284
Ensembl chr 1:86,154,780...86,278,284
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:124,629,052...124,724,455
Ensembl chr 5:124,628,576...124,724,455
JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:21493627, PMID:24886560, PMID:25741868, PMID:25920555, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931
JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 7:25,680,780...25,686,562
Ensembl chr 7:25,680,780...25,686,558
JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988, PMID:25741868, PMID:26092869 NCBI chr 7:100,372,229...100,470,159
Ensembl chr 7:100,372,233...100,470,152
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
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 chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr 6:30,653,457...30,710,517
Ensembl chr 6:30,653,457...30,693,749
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr16:3,907,194...3,942,299
Ensembl chr16:3,908,801...3,941,147
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 chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr19:10,577,157...10,596,832
Ensembl chr19:10,577,172...10,595,961
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr 8:124,890,299...124,897,705
Ensembl chr 8:124,893,108...124,897,705
JBrowse link
G Fam149b family with sequence similarity 149, member B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr14:20,348,158...20,383,491
Ensembl chr14:20,348,162...20,383,491
JBrowse link
G Fto fat mass and obesity associated ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 8:91,313,367...91,668,433
Ensembl chr 8:91,313,525...91,668,439
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr 5:31,253,279...31,291,391
Ensembl chr 5:31,253,277...31,291,116
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
DNA:missense mutations, nonsense mutation:exon:multiple
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, PMID:23386033 RGD:12911208 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203
JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 7:125,707,855...125,874,795
Ensembl chr 7:125,707,888...125,874,793
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Kitl kit ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr10:100,015,615...100,100,416
Ensembl chr10:100,015,630...100,100,416
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 3:30,624,267...30,647,818
Ensembl chr 3:30,624,267...30,647,869
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 3:14,533,762...14,572,658
Ensembl chr 3:14,533,788...14,572,658
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome 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 chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
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 chr  X:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr 8:111,094,609...111,139,781
Ensembl chr 8:111,094,630...111,137,074
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr12:111,039,367...111,115,902
Ensembl chr12:111,039,351...111,115,901
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 chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 2:26,409,431...26,446,293
Ensembl chr 2:26,409,431...26,445,216
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr 5:122,239,495...122,264,489
Ensembl chr 5:122,237,848...122,264,460
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 chr 5:124,598,749...124,627,738
Ensembl chr 5:124,598,749...124,627,738
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr19:10,570,478...10,577,386
Ensembl chr19:10,570,478...10,577,362
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr11:22,512,283...22,519,231
Ensembl chr11:22,512,088...22,519,234
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
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, PMID:20512146 RGD:11067331 NCBI chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868 NCBI chr 8:111,912,007...111,933,813
Ensembl chr 8:111,912,011...111,933,881
JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:17603801, PMID:22152675, PMID:22981120, PMID:24033266, PMID:25741868, PMID:28492532, PMID:22152675 RGD:11561921 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408
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 chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr10:100,443,902...100,487,365
Ensembl chr10:100,443,902...100,487,350
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr12:64,965,576...65,022,573
Ensembl chr12:64,965,804...65,022,573
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:66,183,787...66,256,674
Ensembl chr 2:66,184,327...66,256,617
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 chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
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 chr11:21,571,969...21,898,687
Ensembl chr11:21,572,235...21,898,989
JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 IEA MouseDO NCBI chr 9:91,358,058...91,365,768
Ensembl chr 9:91,358,058...91,365,810
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: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:15322546, PMID:15467982, PMID:16453322, PMID:21623382, PMID:25616960, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429
JBrowse link
G Arl13b ADP-ribosylation factor-like 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868, PMID:28492532 NCBI chr16:62,793,308...62,847,055
Ensembl chr16:62,793,685...62,847,040
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 chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560, PMID:26092869 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931
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 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 chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
JBrowse link
G Cep290 centrosomal protein 290 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-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 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 PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by OMIM:213300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15786477, PMID:18414213, PMID:19668216, PMID:23386033, PMID:25133751, PMID:25741868, PMID:25818971, PMID:26092869, PMID:28492532, PMID:29186038, PMID:29230161, PMID:30202406 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203
JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 5:139,706,692...139,736,333
Ensembl chr 5:139,706,696...139,736,336
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 chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959, PMID:25741868, PMID:28492532 NCBI chr 2:127,740,732...127,788,913
Ensembl chr 2:127,740,732...127,788,897
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr 5:122,239,495...122,264,489
Ensembl chr 5:122,237,848...122,264,460
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 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 chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408
JBrowse link
G Tmem67 transmembrane protein 67 ISO 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 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 chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:66,183,787...66,256,674
Ensembl chr 2:66,184,327...66,256,617
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
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by OMIM:300804
OMIM
ClinVar
PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:16783569, PMID:19800048 RGD:11535965, RGD:11535963 NCBI chr  X:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
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 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
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 OMIM:614173
ClinVar Annotator: match by term: Joubert syndrome 13
ClinVar
OMIM
PMID:18414213, PMID:21725307, PMID:25558065, PMID:25741868, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr 5:122,239,495...122,264,489
Ensembl chr 5:122,237,848...122,264,460
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 chr 1:58,997,116...59,095,023
Ensembl chr 1:58,997,116...59,094,900
JBrowse link
G Mpp4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 1:59,120,935...59,163,389
Ensembl chr 1:59,120,935...59,163,389
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 14
ClinVar Annotator: match by OMIM:614424
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:14760273, PMID:17603801, PMID:22152675, PMID:22981120, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:20301500, PMID:21438139, PMID:22246503, PMID:25741868, PMID:28492532, PMID:29588463, PMID:30664616 NCBI chr 6:30,653,457...30,710,517
Ensembl chr 6:30,653,457...30,693,749
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:22282472, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr19:10,570,478...10,577,386
Ensembl chr19:10,570,478...10,577,362
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
IEA
IAGP
ClinVar Annotator: match by term: Joubert syndrome 17
OMIM:614615
DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by OMIM:614615
OMIM
ClinVar
MouseDO
PMID:10488899, PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25558065, PMID:25741868, PMID:25877302, PMID:25920555, PMID:26092869, PMID:26096313, PMID:27081551, PMID:27158779, PMID:27166760, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386, PMID:25877302 RGD:11537349 NCBI chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22883145, PMID:26092869, PMID:28492532 NCBI chr19:40,596,446...40,612,324
Ensembl chr19:40,596,446...40,612,233
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
ClinVar Annotator: match by OMIM:608091
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
OMIM
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, PMID:20036350 RGD:11561919 NCBI chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238
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 ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar Annotator: match by OMIM:614970
OMIM
ClinVar
PMID:23012439, PMID:25741868, PMID:25869670, PMID:27449316, PMID:28492532 NCBI chr 8:111,912,007...111,933,813
Ensembl chr 8:111,912,011...111,933,881
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(brefeldin A-inhibited) ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807, PMID:24360808, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:10,137,507...10,232,670
Ensembl chr 1:10,137,571...10,232,670
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:10,024,600...10,038,159
Ensembl chr 1:10,024,601...10,038,168
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21
ClinVar Annotator: match by OMIM:615636
OMIM
ClinVar
PMID:24033266, PMID:24360803, PMID:24360807, PMID:24360808, PMID:25558065, PMID:25741868, PMID:26092869, PMID:27894351, PMID:28492532, PMID:29706646, PMID:30311386 NCBI chr 1:10,038,116...10,136,771
Ensembl chr 1:10,037,987...10,136,768
JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 1:9,968,622...10,013,541
Ensembl chr 1:9,968,624...10,009,136
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, cGMP-specific, rod, delta ISO ClinVar Annotator: match by term: Joubert syndrome 22
ClinVar Annotator: match by OMIM:615665
OMIM
ClinVar
PMID:24166846, PMID:25741868, PMID:28492532, PMID:30423442 NCBI chr 1:86,543,012...86,582,785
Ensembl chr 1:86,542,994...86,582,629
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:2609613, PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26166481, PMID:26386044, PMID:26386247, PMID:26437029, PMID:26938784, PMID:28125082, PMID:28492532, PMID:28497568, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr12:71,136,848...71,309,964
Ensembl chr12:71,136,848...71,243,303
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 5:124,629,052...124,724,455
Ensembl chr 5:124,628,576...124,724,455
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 24
ClinVar Annotator: match by term: JOUBERT SYNDROME 24
OMIM
ClinVar
PMID:21565611, PMID:22331178, PMID:25118024, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 5:124,598,749...124,627,738
Ensembl chr 5:124,598,749...124,627,738
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 ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar
OMIM
PMID:25741868, PMID:26477546, PMID:28492532 NCBI chr 4:153,975,126...154,008,732
Ensembl chr 4:153,975,194...154,008,732
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
IEA
ClinVar Annotator: match by term: Joubert syndrome 26
OMIM:616784
ClinVar
OMIM
MouseDO
PMID:26714646, PMID:27245168 NCBI chr 7:125,707,855...125,874,795
Ensembl chr 7:125,707,888...125,874,793
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 OMIM:617120
ClinVar Annotator: match by term: Joubert syndrome 27
ClinVar
OMIM
PMID:24886560, PMID:26092869 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931
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 OMIM:617121
ClinVar Annotator: match by term: Joubert syndrome 28
ClinVar
OMIM
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:23351400, PMID:24886560, PMID:25741868, PMID:26092869, PMID:26490104, PMID:27377014, PMID:27570071, PMID:28492532, PMID:30311386 NCBI chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
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
IEA
IMP
DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
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 Annotator: match by OMIM:608629
ClinVar
MouseDO
OMIM
PMID:15322546, PMID:15467982, PMID:16155189, PMID:16240161, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:21937992, PMID:22236771, PMID:22693042, PMID:22773737, PMID:23532844, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25445212, PMID:25525159, PMID:25558065, PMID:25616960, PMID:25741868, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28041643, PMID:28431631, PMID:28442542, PMID:28492532, PMID:16155189, PMID:18268248, PMID:21623382, PMID:15322546, PMID:26541515, PMID:16453322, PMID:15467982, PMID:18054307 RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429
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 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:28625504, PMID:29159890 NCBI chr 1:86,154,729...86,278,284
Ensembl chr 1:86,154,780...86,278,284
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 ClinVar
OMIM
PMID:27208211, PMID:28492532 NCBI chr18:53,681,723...53,745,636
Ensembl chr18:53,681,723...53,744,608
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:25741868, PMID:28492532, PMID:28965847 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
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 ClinVar
OMIM
PMID:25741868, PMID:26167768 NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
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 ClinVar
OMIM
PMID:30269812 NCBI chr19:46,531,109...46,573,182
Ensembl chr19:46,531,096...46,573,198
JBrowse link
Joubert Syndrome 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam149b family with sequence similarity 149, member B ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 36 OMIM
ClinVar
PMID:30905400 NCBI chr14:20,348,158...20,383,491
Ensembl chr14:20,348,162...20,383,491
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 chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429
JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Joubert syndrome 4
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
PMID:8852662, PMID:9326933, PMID:9856524, PMID:10712196, PMID:10839884, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386, PMID:17409309 RGD:7246903 NCBI chr 2:127,740,732...127,788,913
Ensembl chr 2:127,740,732...127,788,897
JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 4:152,476,706...152,563,184
Ensembl chr 4:152,476,706...152,563,183
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930430F08Rik RIKEN cDNA 4930430F08 gene ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr10:100,572,274...100,589,390
Ensembl chr10:100,572,265...100,590,423
JBrowse link
G Cep290 centrosomal protein 290 ISO
IEA
ClinVar Annotator: match by term: Joubert syndrome 5
OMIM:610188
ClinVar Annotator: match by OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17617513, PMID:17409309 RGD:11537352, RGD:7246903 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
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
IEA
ClinVar Annotator: match by term: Joubert syndrome 6
OMIM:610688
DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by OMIM:610688
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:2929661, PMID:8862632, PMID:9375913, PMID:10508989, PMID:10567047, PMID:12368986, PMID:16541367, 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:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27457812, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28719906, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:31319225, PMID:17160906 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 Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr14:52,104,241...52,161,339
Ensembl chr14:52,110,704...52,163,546
JBrowse link
G Rpgrip1l Rpgrip1-like ISO
IEA
ClinVar Annotator: match by term: Joubert syndrome 7
OMIM:611560
DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by OMIM:611560
OMIM
ClinVar
MouseDO
PMID:17558407, PMID:17558409, PMID:17960139, PMID:18414213, PMID:18565097, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29991045, PMID:30311386, PMID:17960139 RGD:11537350 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
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
DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by OMIM:612291
OMIM
ClinVar
PMID:18674751, PMID:25138100, PMID:25741868, PMID:26092869, PMID:28492532, PMID:18674751 RGD:11553937 NCBI chr16:62,793,308...62,847,055
Ensembl chr16:62,793,685...62,847,040
JBrowse link
G Nsun3 NOL1/NOP2/Sun domain family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,732,444...62,786,884
Ensembl chr16:62,732,444...62,786,818
JBrowse link
G Pros1 protein S (alpha) ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr16:62,814,676...62,822,722
Ensembl chr16:62,814,676...62,824,346
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 6:112,459,505...112,472,872
Ensembl chr 6:112,459,505...112,472,872
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
DNA:splice-site mutation:intron:IVS19+1G>C (human)
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:612285
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18387594, PMID:18414213, PMID:18950740, PMID:19466712, PMID:19574260, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22246503, PMID:22425360, PMID:23012439, PMID:23692786, PMID:24033266, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:26673778, PMID:26729329, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386, PMID:19068953, PMID:22241855, PMID:22241855 RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
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 chr 6:30,653,457...30,710,517
Ensembl chr 6:30,653,457...30,693,749
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 9:63,953,076...64,022,085
Ensembl chr 9:63,953,076...64,022,059
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: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25741868, PMID:25846457, PMID:25920555, PMID:26092869, PMID:27081551, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386 NCBI chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
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 protein domain 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Meckel syndrome, type 10
OMIM
ClinVar
PMID:21763481, PMID:25741868, PMID:28492532 NCBI chr 7:25,680,780...25,686,562
Ensembl chr 7:25,680,780...25,686,558
JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12
ClinVar Annotator: match by OMIM:613820
OMIM
ClinVar
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 2:66,183,787...66,256,674
Ensembl chr 2:66,184,327...66,256,617
JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Nephronophthisis 14
ClinVar Annotator: match by OMIM:614844
OMIM
ClinVar
PMID:22863007, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr 8:87,661,810...87,962,053
Ensembl chr 8:87,661,810...87,959,595
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    syndrome 6524
      ciliopathy 227
        Joubert syndrome 70
          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 18
          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 3
          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 13395
    Developmental Diseases 9393
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8205
        genetic disease 7742
          monogenic disease 5663
            ciliopathy 227
              Joubert syndrome 70
                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 18
                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 3
                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.