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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 chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr33:1,698,360...1,762,846
Ensembl chr33:1,698,363...1,761,641
JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chr25:43,117,272...43,264,854
Ensembl chr25:43,110,182...43,292,123
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
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 chr26:5,911,319...5,952,773
Ensembl chr26:5,912,887...5,952,306
JBrowse link
G B9D1 B9 domain containing 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 chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824
JBrowse link
G C15H12orf29 chromosome 15 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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
JBrowse link
G C15H12orf50 chromosome 15 C12orf50 homolog ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr15:29,141,006...29,182,958
Ensembl chr15:29,140,927...29,182,419
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 chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657
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 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CEP41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr14:6,502,713...6,554,973
Ensembl chr14:6,502,926...6,552,789
JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr 6:37,708,258...37,746,361
Ensembl chr 6:37,708,089...37,746,398
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 chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
JBrowse link
G CYB561A3 cytochrome b561 family member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr18:55,039,788...55,049,739
Ensembl chr18:55,043,942...55,049,143
JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr 4:8,133,526...8,138,185
Ensembl chr 4:8,133,670...8,135,853
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr 4:23,742,456...23,820,160
Ensembl chr 4:23,742,590...23,820,965
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059
JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796
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 chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
JBrowse link
G KATNIP katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 6:18,905,110...19,100,614
Ensembl chr 6:18,905,360...19,100,507
JBrowse link
G KIAA0586 KIAA0586 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 chr 8:33,771,357...33,880,910
Ensembl chr 8:33,771,504...33,880,877
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G KITLG KIT ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974
JBrowse link
G LRRC34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr34:34,407,626...34,421,877
Ensembl chr34:34,407,668...34,421,871
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 chr29:31,677,938...31,716,282
Ensembl chr29:31,678,261...31,715,611
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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338
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:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
JBrowse link
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr 5:76,210,472...76,239,837
Ensembl chr 5:76,213,566...76,239,852
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr 8:70,586,259...70,637,453
Ensembl chr 8:70,585,567...70,627,158
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 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848
JBrowse link
G TCTN1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr26:8,411,429...8,444,640
Ensembl chr26:8,407,105...8,437,027
JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:21565611, PMID:22331178, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr26:5,954,302...5,979,853
Ensembl chr26:5,954,738...5,979,750
JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr18:55,033,586...55,040,001
Ensembl chr18:55,033,589...55,039,325
JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr10:62,355,849...62,361,445
Ensembl chr10:62,356,277...62,361,397
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 chr18:54,988,893...55,018,601 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 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021
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 chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606
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: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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 chr10:62,894,818...63,316,555
Ensembl chr10:62,877,527...63,316,345
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 chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
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 chr33:1,698,360...1,762,846
Ensembl chr33:1,698,363...1,761,641
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 chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
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 chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824
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 chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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 chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO
IEA
Diffuse cystic renal dysplasia and hepatic fibrosis OMIM
OMIA
NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
JBrowse link
G MICALL2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 6:15,503,489...15,513,492
Ensembl chr 6:15,502,998...15,513,509
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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338
JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959, PMID:25741868, PMID:28492532 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
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 chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
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 chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
G TCTN1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr26:8,411,429...8,444,640
Ensembl chr26:8,407,105...8,437,027
JBrowse link
G TMEM216 transmembrane protein 216 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:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532, PMID:28497568 NCBI chr18:54,988,893...55,018,601 JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606
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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674
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 chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
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 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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 chr26:8,411,429...8,444,640
Ensembl chr26:8,407,105...8,437,027
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 chr37:10,555,073...10,682,224
Ensembl chr37:10,557,929...10,682,200
JBrowse link
G MPP4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr37:10,711,324...10,751,329
Ensembl chr37:10,711,597...10,748,889
JBrowse link
G TMEM237 transmembrane protein 237 ISO OMIM NCBI chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606
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 chr14:6,502,713...6,554,973
Ensembl chr14:6,502,926...6,552,789
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 chr18:55,033,586...55,040,001
Ensembl chr18:55,033,589...55,039,325
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 chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
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 chr28:9,155,758...9,181,721
Ensembl chr28:9,156,797...9,181,731
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 chr18:54,988,893...55,018,601 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 chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021
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 chr29:16,712,872...16,852,478
Ensembl chr29:16,708,820...16,852,844
JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr29:16,562,234...16,579,082
Ensembl chr29:16,562,234...16,578,847
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 ISO OMIM NCBI chr29:16,580,747...16,715,201
Ensembl chr29:16,580,562...16,761,901
JBrowse link
G PPP1R42 protein phosphatase 1 regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr29:16,507,235...16,549,210
Ensembl chr29:16,492,392...16,549,320
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 chr25:43,583,271...43,636,682
Ensembl chr25:43,583,901...43,636,790
JBrowse link
Joubert Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0586 KIAA0586 ISO OMIM NCBI chr 8:33,771,357...33,880,910
Ensembl chr 8:33,771,504...33,880,877
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 chr26:5,911,319...5,952,773
Ensembl chr26:5,912,887...5,952,306
JBrowse link
G TCTN2 tectonic family member 2 ISO OMIM NCBI chr26:5,954,302...5,979,853
Ensembl chr26:5,954,738...5,979,750
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 chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
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 chr 6:18,905,110...19,100,614
Ensembl chr 6:18,905,360...19,100,507
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 chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824
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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338
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 chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
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 chr25:43,117,272...43,264,854
Ensembl chr25:43,110,182...43,292,123
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 chr11:13,184,590...13,306,975
Ensembl chr11:13,143,672...13,266,151
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 chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
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 chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
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 chr28:15,152,762...15,189,043
Ensembl chr28:15,142,485...15,188,903
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 chr 4:23,742,456...23,820,160
Ensembl chr 4:23,742,590...23,820,965
JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
JBrowse link
G NPHP1 nephrocystin 1 ISO OMIM NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
JBrowse link
G NPHP4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H12orf29 chromosome 15 C12orf29 homolog ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
JBrowse link
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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 chr33:1,698,360...1,762,846
Ensembl chr33:1,698,363...1,761,641
JBrowse link
G LOC609048 dihydrofolate reductase ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr19:16,731,187...16,731,854 JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr33:1,774,908...1,826,948
Ensembl chr33:1,774,834...1,826,677
JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058
JBrowse link
G STX19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr33:1,726,019...1,736,949
Ensembl chr33:1,726,695...1,727,579
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 chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple OMIM
RGD
PMID:22241855 RGD:11062645 NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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 chr14:6,502,713...6,554,973
Ensembl chr14:6,502,926...6,552,789
JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr30:30,938,908...31,014,259
Ensembl chr30:30,937,849...31,014,583
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 chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
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 chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674
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 chr 2:65,512,342...65,778,410
Ensembl chr 2:65,438,842...65,778,407
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    syndrome 6140
      ciliopathy 215
        Joubert syndrome 69
          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 5
          Joubert syndrome 9 4
          Joubert syndrome with orofaciodigital defect 1
          Meckel Syndrome, Type 10 0
          nephronophthisis 12 1
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 12678
    Developmental Diseases 8956
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7816
        genetic disease 7363
          monogenic disease 5400
            ciliopathy 215
              Joubert syndrome 69
                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 5
                Joubert syndrome 9 4
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome, Type 10 0
                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.